diff --git a/latest/genindex.html b/latest/genindex.html
index b4b8585cb..af01dc001 100644
--- a/latest/genindex.html
+++ b/latest/genindex.html
@@ -241,13 +241,15 @@
C
compute_survival() (gpsea.analysis.temporal.Endpoint method)
-
-
|
+
- configure_cohort_creator() (in module gpsea.preprocessing)
- configure_default_protein_metadata_service() (in module gpsea.preprocessing)
+
+ - configure_hpo_term_analysis() (in module gpsea.analysis.pcats)
- configure_protein_metadata_service() (in module gpsea.preprocessing)
diff --git a/latest/objects.inv b/latest/objects.inv
index 66675c6b3..198bb1d2b 100644
Binary files a/latest/objects.inv and b/latest/objects.inv differ
diff --git a/latest/searchindex.js b/latest/searchindex.js
index 6aff8385e..13fee0c49 100644
--- a/latest/searchindex.js
+++ b/latest/searchindex.js
@@ -1 +1 @@
-Search.setIndex({"alltitles": {"API reference": [[20, null]], "Alternative phenopacket sources": [[34, "alternative-phenopacket-sources"]], "Analysis": [[25, "analysis"], [26, "analysis"], [27, "analysis"], [28, "analysis"]], "Background": [[35, "background"]], "Biallelic predicate": [[44, "biallelic-predicate"]], "Biallelic predicate genotype groups": [[44, "id8"]], "Building blocks": [[45, "building-blocks"]], "Categories": [[44, "categories"]], "Change length of an allele": [[32, "change-length-of-an-allele"]], "Choose the transcript": [[34, "choose-the-transcript"]], "Choose the transcript and protein of interest": [[34, "choose-the-transcript-and-protein-of-interest"]], "Cohort exploratory analysis": [[30, null]], "Cohort summary": [[30, "cohort-summary"]], "Compare genotype and phenotype groups": [[26, null]], "Compare measurement values": [[25, null]], "Compare phenotype scores in genotype groups": [[27, null]], "Compare the individuals with EGFR mutation": [[36, "compare-the-individuals-with-egfr-mutation"]], "Compare the individuals with monoallelic and biallelic mutations": [[36, "compare-the-individuals-with-monoallelic-and-biallelic-mutations"]], "Complex conditions": [[45, "complex-conditions"]], "Configure a cohort creator": [[34, "configure-a-cohort-creator"]], "Configure analysis": [[25, "configure-analysis"], [26, "configure-analysis"], [27, "configure-analysis"], [28, "configure-analysis"]], "Contents:": [[24, null], [33, null], [39, null], [41, null], [42, null]], "Create a cohort from GA4GH phenopackets": [[34, "create-a-cohort-from-ga4gh-phenopackets"]], "De Vries Score": [[37, null]], "Developmental delay": [[37, "developmental-delay"]], "Distribution of variants across protein domains": [[30, "distribution-of-variants-across-protein-domains"]], "Enter features manually": [[34, "enter-features-manually"]], "Example": [[34, "example"], [34, "id4"], [40, "example"], [44, "example"], [44, "id5"], [44, "id6"]], "Example analysis": [[25, "example-analysis"], [26, "example-analysis"], [27, "example-analysis"], [28, "example-analysis"]], "Examples": [[36, "examples"]], "Exploration": [[30, "exploration"]], "Explore cohort": [[23, "explore-cohort"]], "Facial dysmorphic features": [[37, "facial-dysmorphic-features"]], "Feedback": [[21, "feedback"]], "Fetch data from UniProt REST API": [[34, "fetch-data-from-uniprot-rest-api"]], "Fetch protein data": [[34, "fetch-protein-data"]], "Fetch transcript coordinates from Variant Validator REST API": [[34, "fetch-transcript-coordinates-from-variant-validator-rest-api"]], "Final analysis": [[25, "final-analysis"], [26, "final-analysis"], [27, "final-analysis"], [28, "final-analysis"]], "Final score": [[37, "final-score"]], "Fisher exact test (FET)": [[26, "fisher-exact-test-fet"]], "GPSEA": [[21, null]], "Gallery": [[41, "gallery"]], "General HPO terms": [[31, null]], "Genotype Predicates": [[39, null]], "Genotype phenotype associations": [[26, "genotype-phenotype-associations"]], "Genotype predicate": [[25, "genotype-predicate"], [26, "genotype-predicate"], [27, "genotype-predicate"], [28, "genotype-predicate"]], "Genotype-Phenotype Correlations in Autosomal Recessive Diseases": [[29, null]], "Get the transcript data": [[34, "get-the-transcript-data"]], "Glossary": [[32, null]], "Group by allele count": [[36, null]], "Group by diagnosis": [[38, null]], "Group by sex": [[43, null]], "Group by variant category": [[44, null]], "HMF01 - Skip terms that occur very rarely": [[35, "hmf01-skip-terms-that-occur-very-rarely"]], "HMF02 - Skip terms if no genotype group has more than one count": [[35, "hmf02-skip-terms-if-no-genotype-group-has-more-than-one-count"]], "HMF03 - Skip terms if all counts are identical to counts for a child term": [[35, "hmf03-skip-terms-if-all-counts-are-identical-to-counts-for-a-child-term"]], "HMF05 - Skip term if one of the genotype groups has neither observed nor excluded observations": [[35, "hmf05-skip-term-if-one-of-the-genotype-groups-has-neither-observed-nor-excluded-observations"]], "HMF06 - Skip term if underpowered for 2x2 or 2x3 analysis": [[35, "hmf06-skip-term-if-underpowered-for-2x2-or-2x3-analysis"]], "HMF07 - Skipping terms that are not descendents of Phenotypic abnormality": [[35, "hmf07-skipping-terms-that-are-not-descendents-of-phenotypic-abnormality"]], "HMF08 - Skipping \u201cgeneral\u201d level terms": [[35, "hmf08-skipping-general-level-terms"]], "HMF09 - Skipping terms that are rare on the cohort level": [[35, "hmf09-skipping-terms-that-are-rare-on-the-cohort-level"]], "HPO MTC filter strategy": [[35, "hpo-mtc-filter-strategy"]], "HPO predicate": [[40, null]], "Implementation in GPSEA": [[35, "implementation-in-gpsea"]], "Input data": [[34, null]], "Installation": [[22, null]], "Interactive exploration": [[30, "interactive-exploration"]], "Inverting conditions": [[45, "inverting-conditions"]], "Kaplan-Meier curves": [[28, "kaplan-meier-curves"]], "Latest release": [[22, "latest-release"]], "Length of the reference allele": [[32, "length-of-the-reference-allele"]], "Literature": [[21, "literature"]], "Load HPO": [[23, "load-hpo"], [27, "load-hpo"]], "Load cohort": [[25, "load-cohort"], [26, "load-cohort"], [27, "load-cohort"], [28, "load-cohort"], [45, "load-cohort"]], "Load phenopackets": [[34, "load-phenopackets"]], "MTC filters: Choosing which terms to test": [[35, "mtc-filters-choosing-which-terms-to-test"]], "Mann-Whitney U Test": [[27, "mann-whitney-u-test"]], "Monoallelic predicate": [[44, "monoallelic-predicate"]], "Monoallelic predicate genotype groups": [[44, "id7"]], "Multiple testing correction": [[26, "multiple-testing-correction"]], "Multiple-testing correction": [[35, null]], "Multiple-testing correction procedures": [[35, "multiple-testing-correction-procedures"]], "Need more?": [[41, "need-more"]], "Non-facial dysmorphism and congenital abnormalities": [[37, "non-facial-dysmorphism-and-congenital-abnormalities"]], "Parse UniProt JSON dump": [[34, "parse-uniprot-json-dump"]], "Partitions": [[44, "partitions"]], "Persist the cohort for later": [[34, "persist-the-cohort-for-later"]], "Phenotype Predicates": [[42, null]], "Phenotype predicates": [[26, "phenotype-predicates"]], "Phenotype score": [[25, "phenotype-score"], [27, "phenotype-score"]], "Plot distribution of cohort variants on the protein": [[34, "plot-distribution-of-cohort-variants-on-the-protein"]], "Plot distribution of variants with respect to the protein sequence": [[23, "plot-distribution-of-variants-with-respect-to-the-protein-sequence"], [30, "plot-distribution-of-variants-with-respect-to-the-protein-sequence"]], "Postnatal growth abnormalities": [[37, "postnatal-growth-abnormalities"]], "Power": [[30, "power"]], "Predicates": [[41, null]], "Predicates for all cohort phenotypes": [[40, "predicates-for-all-cohort-phenotypes"]], "Prenatal-onset growth retardation": [[37, "prenatal-onset-growth-retardation"]], "Prepare cohort": [[23, "prepare-cohort"]], "Prepare genotype and phenotype predicates": [[23, "prepare-genotype-and-phenotype-predicates"]], "Provide the transcript coordinates manually": [[34, "provide-the-transcript-coordinates-manually"]], "Quality control": [[34, "quality-control"]], "Raw data": [[28, "raw-data"]], "Run tests": [[22, "run-tests"]], "Show cohort summary": [[23, "show-cohort-summary"]], "Showcase transcript data": [[34, "showcase-transcript-data"]], "Specify terms strategy": [[35, "specify-terms-strategy"]], "Stable release": [[22, "stable-release"]], "Standardize genotype and phenotype data": [[34, "standardize-genotype-and-phenotype-data"]], "Statistical analyses": [[24, null]], "Statistical test": [[25, "statistical-test"], [26, "statistical-test"], [27, "statistical-test"], [28, "statistical-test"]], "Submodules": [[0, "submodules"]], "Subpackages": [[0, "subpackages"], [1, "subpackages"], [3, "subpackages"], [5, "subpackages"], [8, "subpackages"], [10, "subpackages"], [15, "subpackages"]], "Summarize all variant alleles": [[23, "summarize-all-variant-alleles"]], "Supports shape": [[4, "supports-shape"]], "Survival analysis": [[28, null]], "Survival endpoint": [[28, "survival-endpoint"]], "TBX5 frameshift vs missense": [[23, "id5"]], "TBX5 frameshift vs rest": [[26, "id1"]], "Test all terms": [[35, "test-all-terms"]], "The analysis": [[23, "the-analysis"]], "The sections of the score": [[37, "the-sections-of-the-score"]], "True path rule": [[32, "true-path-rule"]], "Tutorial": [[23, null], [29, "tutorial"]], "Types of statistical test": [[30, "types-of-statistical-test"]], "User guide": [[33, null]], "Using the De Vries scorer in code": [[37, "using-the-de-vries-scorer-in-code"]], "Variant Predicates": [[45, null]], "gpsea package": [[0, null]], "gpsea.analysis package": [[1, null]], "gpsea.analysis.mtc_filter package": [[2, null]], "gpsea.analysis.pcats package": [[3, null]], "gpsea.analysis.pcats.stats package": [[4, null]], "gpsea.analysis.predicate package": [[5, null]], "gpsea.analysis.predicate.genotype package": [[6, null]], "gpsea.analysis.predicate.phenotype package": [[7, null]], "gpsea.analysis.pscore package": [[8, null]], "gpsea.analysis.pscore.stats package": [[9, null]], "gpsea.analysis.temporal package": [[10, null]], "gpsea.analysis.temporal.endpoint package": [[11, null]], "gpsea.analysis.temporal.stats package": [[12, null]], "gpsea.config module": [[13, null]], "gpsea.io module": [[14, null]], "gpsea.model package": [[15, null]], "gpsea.model.genome package": [[16, null]], "gpsea.preprocessing package": [[17, null]], "gpsea.util module": [[18, null]], "gpsea.view package": [[19, null]], "missing_implies_phenotype_excluded": [[40, "missing-implies-phenotype-excluded"]]}, "docnames": ["apidocs/gpsea", "apidocs/gpsea.analysis", "apidocs/gpsea.analysis.mtc_filter", "apidocs/gpsea.analysis.pcats", "apidocs/gpsea.analysis.pcats.stats", "apidocs/gpsea.analysis.predicate", "apidocs/gpsea.analysis.predicate.genotype", "apidocs/gpsea.analysis.predicate.phenotype", "apidocs/gpsea.analysis.pscore", "apidocs/gpsea.analysis.pscore.stats", "apidocs/gpsea.analysis.temporal", "apidocs/gpsea.analysis.temporal.endpoint", "apidocs/gpsea.analysis.temporal.stats", "apidocs/gpsea.config", "apidocs/gpsea.io", "apidocs/gpsea.model", "apidocs/gpsea.model.genome", "apidocs/gpsea.preprocessing", "apidocs/gpsea.util", "apidocs/gpsea.view", "apidocs/modules", "index", "installation", "tutorial", "user-guide/analyses/index", "user-guide/analyses/measurements", "user-guide/analyses/phenotype-groups", "user-guide/analyses/phenotype-scores", "user-guide/analyses/survival", "user-guide/autosomal_recessive", "user-guide/exploratory", "user-guide/general_hpo_terms", "user-guide/glossary", "user-guide/index", "user-guide/input-data", "user-guide/mtc", "user-guide/predicates/allele_count", "user-guide/predicates/devries", "user-guide/predicates/diagnosis", "user-guide/predicates/genotype_predicates", "user-guide/predicates/hpo_predicate", "user-guide/predicates/index", "user-guide/predicates/phenotype_predicates", "user-guide/predicates/sex", "user-guide/predicates/variant_category", "user-guide/predicates/variant_predicates"], "envversion": {"sphinx": 64, "sphinx.domains.c": 3, "sphinx.domains.changeset": 1, "sphinx.domains.citation": 1, "sphinx.domains.cpp": 9, "sphinx.domains.index": 1, "sphinx.domains.javascript": 3, "sphinx.domains.math": 2, "sphinx.domains.python": 4, "sphinx.domains.rst": 2, "sphinx.domains.std": 2, "sphinx.ext.intersphinx": 1, "sphinx.ext.viewcode": 1}, "filenames": ["apidocs/gpsea.rst", "apidocs/gpsea.analysis.rst", "apidocs/gpsea.analysis.mtc_filter.rst", "apidocs/gpsea.analysis.pcats.rst", "apidocs/gpsea.analysis.pcats.stats.rst", "apidocs/gpsea.analysis.predicate.rst", "apidocs/gpsea.analysis.predicate.genotype.rst", "apidocs/gpsea.analysis.predicate.phenotype.rst", "apidocs/gpsea.analysis.pscore.rst", "apidocs/gpsea.analysis.pscore.stats.rst", "apidocs/gpsea.analysis.temporal.rst", "apidocs/gpsea.analysis.temporal.endpoint.rst", "apidocs/gpsea.analysis.temporal.stats.rst", "apidocs/gpsea.config.rst", "apidocs/gpsea.io.rst", "apidocs/gpsea.model.rst", "apidocs/gpsea.model.genome.rst", "apidocs/gpsea.preprocessing.rst", "apidocs/gpsea.util.rst", "apidocs/gpsea.view.rst", "apidocs/modules.rst", "index.rst", "installation.rst", "tutorial.rst", "user-guide/analyses/index.rst", "user-guide/analyses/measurements.rst", "user-guide/analyses/phenotype-groups.rst", "user-guide/analyses/phenotype-scores.rst", "user-guide/analyses/survival.rst", "user-guide/autosomal_recessive.rst", "user-guide/exploratory.rst", "user-guide/general_hpo_terms.rst", "user-guide/glossary.rst", "user-guide/index.rst", "user-guide/input-data.rst", "user-guide/mtc.rst", "user-guide/predicates/allele_count.rst", "user-guide/predicates/devries.rst", "user-guide/predicates/diagnosis.rst", "user-guide/predicates/genotype_predicates.rst", "user-guide/predicates/hpo_predicate.rst", "user-guide/predicates/index.rst", "user-guide/predicates/phenotype_predicates.rst", "user-guide/predicates/sex.rst", "user-guide/predicates/variant_category.rst", "user-guide/predicates/variant_predicates.rst"], "indexentries": {"age (class in gpsea.model)": [[15, "gpsea.model.Age", false]], "age (gpsea.model.patient property)": [[15, "gpsea.model.Patient.age", false]], "age_of_death (gpsea.model.vitalstatus attribute)": [[15, "gpsea.model.VitalStatus.age_of_death", false]], "alive (gpsea.model.status attribute)": [[15, "gpsea.model.Status.ALIVE", false]], "all() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.all", false]], "all_counts (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.all_counts", false]], "all_counts (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.all_counts", false]], "all_diseases() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.all_diseases", false]], "all_measurements() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.all_measurements", false]], "all_patients (gpsea.model.cohort property)": [[15, "gpsea.model.Cohort.all_patients", false]], "all_phenotypes() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.all_phenotypes", false]], "all_transcript_ids (gpsea.model.cohort property)": [[15, "gpsea.model.Cohort.all_transcript_ids", false]], "all_variant_infos() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.all_variant_infos", false]], "all_variants() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.all_variants", false]], "allele_count() (in module gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.allele_count", false]], "allelecounter (class in gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.AlleleCounter", false]], "alt (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.alt", false]], "analysisresult (class in gpsea.analysis)": [[1, "gpsea.analysis.AnalysisResult", false]], "annotate() (gpsea.preprocessing.defaultimprecisesvfunctionalannotator method)": [[17, "gpsea.preprocessing.DefaultImpreciseSvFunctionalAnnotator.annotate", false]], "annotate() (gpsea.preprocessing.functionalannotator method)": [[17, "gpsea.preprocessing.FunctionalAnnotator.annotate", false]], "annotate() (gpsea.preprocessing.imprecisesvfunctionalannotator method)": [[17, "gpsea.preprocessing.ImpreciseSvFunctionalAnnotator.annotate", false]], "annotate() (gpsea.preprocessing.protcachingmetadataservice method)": [[17, "gpsea.preprocessing.ProtCachingMetadataService.annotate", false]], "annotate() (gpsea.preprocessing.proteinmetadataservice method)": [[17, "gpsea.preprocessing.ProteinMetadataService.annotate", false]], "annotate() (gpsea.preprocessing.uniprotproteinmetadataservice method)": [[17, "gpsea.preprocessing.UniprotProteinMetadataService.annotate", false]], "annotate() (gpsea.preprocessing.varcachingfunctionalannotator method)": [[17, "gpsea.preprocessing.VarCachingFunctionalAnnotator.annotate", false]], "annotate() (gpsea.preprocessing.vepfunctionalannotator method)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator.annotate", false]], "any() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.any", false]], "apply_predicates_on_patients() (in module gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.apply_predicates_on_patients", false]], "biallelic_predicate() (in module gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.biallelic_predicate", false]], "birth() (gpsea.model.age static method)": [[15, "gpsea.model.Age.birth", false]], "cache_env (in module gpsea.config)": [[13, "gpsea.config.CACHE_ENV", false]], "cds_end (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.cds_end", false]], "cds_start (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.cds_start", false]], "change_length (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.change_length", false]], "change_length() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.change_length", false]], "chrom (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.chrom", false]], "code (gpsea.analysis.mtc_filter.phenotypemtcissue attribute)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcIssue.code", false]], "code (gpsea.model.genotype property)": [[15, "gpsea.model.Genotype.code", false]], "coding_sequence_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.CODING_SEQUENCE_VARIANT", false]], "cohort (class in gpsea.model)": [[15, "gpsea.model.Cohort", false]], "cohortcreator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.CohortCreator", false]], "cohortvariantviewer (class in gpsea.view)": [[19, "gpsea.view.CohortVariantViewer", false]], "cohortviewer (class in gpsea.view)": [[19, "gpsea.view.CohortViewer", false]], "coiled_coil (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.COILED_COIL", false]], "compare_genotype_vs_phenotype_score() (gpsea.analysis.pscore.phenotypescoreanalysis method)": [[8, "gpsea.analysis.pscore.PhenotypeScoreAnalysis.compare_genotype_vs_phenotype_score", false]], "compare_genotype_vs_phenotypes() (gpsea.analysis.pcats.multiphenotypeanalysis method)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysis.compare_genotype_vs_phenotypes", false]], "compare_genotype_vs_survival() (gpsea.analysis.temporal.survivalanalysis method)": [[10, "gpsea.analysis.temporal.SurvivalAnalysis.compare_genotype_vs_survival", false]], "complete_records() (gpsea.analysis.monophenotypeanalysisresult method)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.complete_records", false]], "compositional_bias (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.COMPOSITIONAL_BIAS", false]], "compute_pval() (gpsea.analysis.pcats.stats.countstatistic method)": [[4, "gpsea.analysis.pcats.stats.CountStatistic.compute_pval", false]], "compute_pval() (gpsea.analysis.pcats.stats.fisherexacttest method)": [[4, "gpsea.analysis.pcats.stats.FisherExactTest.compute_pval", false]], "compute_pval() (gpsea.analysis.pscore.stats.mannwhitneystatistic method)": [[9, "gpsea.analysis.pscore.stats.MannWhitneyStatistic.compute_pval", false]], "compute_pval() (gpsea.analysis.pscore.stats.phenotypescorestatistic method)": [[9, "gpsea.analysis.pscore.stats.PhenotypeScoreStatistic.compute_pval", false]], "compute_pval() (gpsea.analysis.pscore.stats.tteststatistic method)": [[9, "gpsea.analysis.pscore.stats.TTestStatistic.compute_pval", false]], "compute_pval() (gpsea.analysis.temporal.stats.logranktest method)": [[12, "gpsea.analysis.temporal.stats.LogRankTest.compute_pval", false]], "compute_pval() (gpsea.analysis.temporal.stats.survivalstatistic method)": [[12, "gpsea.analysis.temporal.stats.SurvivalStatistic.compute_pval", false]], "compute_survival() (gpsea.analysis.temporal.endpoint method)": [[10, "gpsea.analysis.temporal.Endpoint.compute_survival", false]], "configure_caching_cohort_creator() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.configure_caching_cohort_creator", false]], "configure_cohort_creator() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.configure_cohort_creator", false]], "configure_default_protein_metadata_service() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.configure_default_protein_metadata_service", false]], "configure_protein_metadata_service() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.configure_protein_metadata_service", false]], "contains() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.contains", false]], "contains() (gpsea.model.genome.region method)": [[16, "gpsea.model.genome.Region.contains", false]], "contains_pos() (gpsea.model.genome.region method)": [[16, "gpsea.model.genome.Region.contains_pos", false]], "contig (class in gpsea.model.genome)": [[16, "gpsea.model.genome.Contig", false]], "contig (gpsea.model.genome.genomicregion property)": [[16, "gpsea.model.genome.GenomicRegion.contig", false]], "contig_by_name() (gpsea.model.genome.genomebuild method)": [[16, "gpsea.model.genome.GenomeBuild.contig_by_name", false]], "contigs (gpsea.model.genome.genomebuild property)": [[16, "gpsea.model.genome.GenomeBuild.contigs", false]], "corrected_pvals (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.corrected_pvals", false]], "corrected_pvals (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.corrected_pvals", false]], "count() (gpsea.analysis.predicate.genotype.allelecounter method)": [[6, "gpsea.analysis.predicate.genotype.AlleleCounter.count", false]], "count_alive() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_alive", false]], "count_deceased() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_deceased", false]], "count_distinct_hpo_terms() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_distinct_hpo_terms", false]], "count_females() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_females", false]], "count_males() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_males", false]], "count_unknown_sex() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_unknown_sex", false]], "count_unknown_vital_status() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_unknown_vital_status", false]], "count_with_age_of_last_encounter() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_with_age_of_last_encounter", false]], "count_with_disease_onset() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_with_disease_onset", false]], "countingphenotypescorer (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer", false]], "countstatistic (class in gpsea.analysis.pcats.stats)": [[4, "gpsea.analysis.pcats.stats.CountStatistic", false]], "create() (gpsea.model.proteinfeature static method)": [[15, "gpsea.model.ProteinFeature.create", false]], "create_variant_from_scratch() (gpsea.model.variant static method)": [[15, "gpsea.model.Variant.create_variant_from_scratch", false]], "curie (gpsea.model.varianteffect property)": [[15, "gpsea.model.VariantEffect.curie", false]], "data (gpsea.analysis.monophenotypeanalysisresult property)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.data", false]], "data_columns (gpsea.analysis.monophenotypeanalysisresult attribute)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.DATA_COLUMNS", false]], "days (gpsea.model.age property)": [[15, "gpsea.model.Age.days", false]], "days_in_month (gpsea.model.age attribute)": [[15, "gpsea.model.Age.DAYS_IN_MONTH", false]], "days_in_week (gpsea.model.age attribute)": [[15, "gpsea.model.Age.DAYS_IN_WEEK", false]], "days_in_year (gpsea.model.age attribute)": [[15, "gpsea.model.Age.DAYS_IN_YEAR", false]], "death() (in module gpsea.analysis.temporal.endpoint)": [[11, "gpsea.analysis.temporal.endpoint.death", false]], "deceased (gpsea.model.status attribute)": [[15, "gpsea.model.Status.DECEASED", false]], "default() (gpsea.io.gpseajsonencoder method)": [[14, "gpsea.io.GpseaJSONEncoder.default", false]], "default_cache_path (in module gpsea.config)": [[13, "gpsea.config.DEFAULT_CACHE_PATH", false]], "default_filter() (gpsea.analysis.mtc_filter.hpomtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.default_filter", false]], "default_parser() (gpsea.preprocessing.phenopacketontologytermonsetparser static method)": [[17, "gpsea.preprocessing.PhenopacketOntologyTermOnsetParser.default_parser", false]], "defaultimprecisesvfunctionalannotator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.DefaultImpreciseSvFunctionalAnnotator", false]], "del (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.DEL", false]], "description (gpsea.analysis.predicate.phenotype.diseasepresencepredicate property)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.description", false]], "description (gpsea.analysis.predicate.phenotype.hpopredicate property)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.description", false]], "description (gpsea.analysis.pscore.countingphenotypescorer property)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer.description", false]], "description (gpsea.analysis.pscore.devriesphenotypescorer property)": [[8, "gpsea.analysis.pscore.DeVriesPhenotypeScorer.description", false]], "description (gpsea.analysis.pscore.measurementphenotypescorer property)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.description", false]], "devriesphenotypescorer (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.DeVriesPhenotypeScorer", false]], "diagnosis_predicate() (in module gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.diagnosis_predicate", false]], "disease (class in gpsea.model)": [[15, "gpsea.model.Disease", false]], "disease_by_id() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.disease_by_id", false]], "disease_onset() (in module gpsea.analysis.temporal.endpoint)": [[11, "gpsea.analysis.temporal.endpoint.disease_onset", false]], "diseaseanalysis (class in gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.DiseaseAnalysis", false]], "diseasepresencepredicate (class in gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate", false]], "diseases (gpsea.model.patient property)": [[15, "gpsea.model.Patient.diseases", false]], "diseaseviewer (class in gpsea.view)": [[19, "gpsea.view.DiseaseViewer", false]], "distance_to() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.distance_to", false]], "distance_to() (gpsea.model.genome.region method)": [[16, "gpsea.model.genome.Region.distance_to", false]], "domain (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.DOMAIN", false]], "domains() (gpsea.model.proteinmetadata method)": [[15, "gpsea.model.ProteinMetadata.domains", false]], "downstream_gene_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.DOWNSTREAM_GENE_VARIANT", false]], "draw_fig() (gpsea.view.proteinvisualizer method)": [[19, "gpsea.view.ProteinVisualizer.draw_fig", false]], "draw_protein_diagram() (gpsea.view.proteinvisualizer method)": [[19, "gpsea.view.ProteinVisualizer.draw_protein_diagram", false]], "draw_variants() (gpsea.view.varianttranscriptvisualizer method)": [[19, "gpsea.view.VariantTranscriptVisualizer.draw_variants", false]], "dup (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.DUP", false]], "empty() (gpsea.model.genotypes static method)": [[15, "gpsea.model.Genotypes.empty", false]], "end (gpsea.model.featureinfo property)": [[15, "gpsea.model.FeatureInfo.end", false]], "end (gpsea.model.genome.region property)": [[16, "gpsea.model.genome.Region.end", false]], "end (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.end", false]], "end_on_strand() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.end_on_strand", false]], "endpoint (class in gpsea.analysis.temporal)": [[10, "gpsea.analysis.temporal.Endpoint", false]], "endpoint (gpsea.analysis.temporal.survivalanalysisresult property)": [[10, "gpsea.analysis.temporal.SurvivalAnalysisResult.endpoint", false]], "excluded_diseases() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.excluded_diseases", false]], "excluded_phenotypes() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.excluded_phenotypes", false]], "exon() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.exon", false]], "exons (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.exons", false]], "fail() (gpsea.analysis.mtc_filter.phenotypemtcresult static method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.fail", false]], "feature_elongation (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.FEATURE_ELONGATION", false]], "feature_truncation (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.FEATURE_TRUNCATION", false]], "feature_type (gpsea.model.proteinfeature property)": [[15, "gpsea.model.ProteinFeature.feature_type", false]], "featureinfo (class in gpsea.model)": [[15, "gpsea.model.FeatureInfo", false]], "featuretype (class in gpsea.model)": [[15, "gpsea.model.FeatureType", false]], "female (gpsea.model.sex attribute)": [[15, "gpsea.model.Sex.FEMALE", false]], "fetch() (gpsea.preprocessing.transcriptcoordinateservice method)": [[17, "gpsea.preprocessing.TranscriptCoordinateService.fetch", false]], "fetch() (gpsea.preprocessing.vvmulticoordinateservice method)": [[17, "gpsea.preprocessing.VVMultiCoordinateService.fetch", false]], "fetch_for_gene() (gpsea.preprocessing.genecoordinateservice method)": [[17, "gpsea.preprocessing.GeneCoordinateService.fetch_for_gene", false]], "fetch_for_gene() (gpsea.preprocessing.vvmulticoordinateservice method)": [[17, "gpsea.preprocessing.VVMultiCoordinateService.fetch_for_gene", false]], "fetch_response() (gpsea.preprocessing.vepfunctionalannotator method)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator.fetch_response", false]], "filter() (gpsea.analysis.mtc_filter.hpomtcfilter method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.filter", false]], "filter() (gpsea.analysis.mtc_filter.phenotypemtcfilter method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcFilter.filter", false]], "filter() (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.filter", false]], "filter() (gpsea.analysis.mtc_filter.usealltermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.UseAllTermsMtcFilter.filter", false]], "filter_method_name() (gpsea.analysis.mtc_filter.hpomtcfilter method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.filter_method_name", false]], "filter_method_name() (gpsea.analysis.mtc_filter.phenotypemtcfilter method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcFilter.filter_method_name", false]], "filter_method_name() (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.filter_method_name", false]], "filter_method_name() (gpsea.analysis.mtc_filter.usealltermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.UseAllTermsMtcFilter.filter_method_name", false]], "find_coordinates() (gpsea.preprocessing.phenopacketvariantcoordinatefinder method)": [[17, "gpsea.preprocessing.PhenopacketVariantCoordinateFinder.find_coordinates", false]], "find_coordinates() (gpsea.preprocessing.variantcoordinatefinder method)": [[17, "gpsea.preprocessing.VariantCoordinateFinder.find_coordinates", false]], "find_coordinates() (gpsea.preprocessing.vvhgvsvariantcoordinatefinder method)": [[17, "gpsea.preprocessing.VVHgvsVariantCoordinateFinder.find_coordinates", false]], "fisherexacttest (class in gpsea.analysis.pcats.stats)": [[4, "gpsea.analysis.pcats.stats.FisherExactTest", false]], "five_prime_utr_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.FIVE_PRIME_UTR_VARIANT", false]], "for_sample() (gpsea.model.genotypes method)": [[15, "gpsea.model.Genotypes.for_sample", false]], "format_as_string() (gpsea.view.formatter method)": [[19, "gpsea.view.Formatter.format_as_string", false]], "format_as_string() (gpsea.view.variantformatter method)": [[19, "gpsea.view.VariantFormatter.format_as_string", false]], "format_coordinates_for_vep_query() (gpsea.preprocessing.vepfunctionalannotator static method)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator.format_coordinates_for_vep_query", false]], "formatter (class in gpsea.view)": [[19, "gpsea.view.Formatter", false]], "frameshift_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.FRAMESHIFT_VARIANT", false]], "from_feature_frame() (gpsea.model.proteinmetadata static method)": [[15, "gpsea.model.ProteinMetadata.from_feature_frame", false]], "from_iso8601_period() (gpsea.model.age static method)": [[15, "gpsea.model.Age.from_iso8601_period", false]], "from_mapping() (gpsea.model.genotypes static method)": [[15, "gpsea.model.Genotypes.from_mapping", false]], "from_measurement_id() (gpsea.analysis.pscore.measurementphenotypescorer static method)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.from_measurement_id", false]], "from_patients() (gpsea.model.cohort static method)": [[15, "gpsea.model.Cohort.from_patients", false]], "from_query_curies() (gpsea.analysis.pscore.countingphenotypescorer static method)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer.from_query_curies", false]], "from_raw_parts() (gpsea.model.disease static method)": [[15, "gpsea.model.Disease.from_raw_parts", false]], "from_raw_parts() (gpsea.model.patient static method)": [[15, "gpsea.model.Patient.from_raw_parts", false]], "from_raw_parts() (gpsea.model.phenotype static method)": [[15, "gpsea.model.Phenotype.from_raw_parts", false]], "from_string() (gpsea.model.featuretype static method)": [[15, "gpsea.model.FeatureType.from_string", false]], "from_term() (gpsea.model.phenotype static method)": [[15, "gpsea.model.Phenotype.from_term", false]], "from_uniprot_json() (gpsea.model.proteinmetadata static method)": [[15, "gpsea.model.ProteinMetadata.from_uniprot_json", false]], "from_vcf_literal() (gpsea.model.variantcoordinates static method)": [[15, "gpsea.model.VariantCoordinates.from_vcf_literal", false]], "from_vcf_symbolic() (gpsea.model.variantcoordinates static method)": [[15, "gpsea.model.VariantCoordinates.from_vcf_symbolic", false]], "functionalannotationaware (class in gpsea.model)": [[15, "gpsea.model.FunctionalAnnotationAware", false]], "functionalannotator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.FunctionalAnnotator", false]], "genbank_acc (gpsea.model.genome.contig property)": [[16, "gpsea.model.genome.Contig.genbank_acc", false]], "gene() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.gene", false]], "gene_id (gpsea.model.imprecisesvinfo property)": [[15, "gpsea.model.ImpreciseSvInfo.gene_id", false]], "gene_id (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.gene_id", false]], "gene_id (gpsea.model.transcriptinfoaware property)": [[15, "gpsea.model.TranscriptInfoAware.gene_id", false]], "gene_symbol (gpsea.model.imprecisesvinfo property)": [[15, "gpsea.model.ImpreciseSvInfo.gene_symbol", false]], "genecoordinateservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.GeneCoordinateService", false]], "genome_build_id (gpsea.model.genome.genomebuild property)": [[16, "gpsea.model.genome.GenomeBuild.genome_build_id", false]], "genomebuild (class in gpsea.model.genome)": [[16, "gpsea.model.genome.GenomeBuild", false]], "genomebuildidentifier (class in gpsea.model.genome)": [[16, "gpsea.model.genome.GenomeBuildIdentifier", false]], "genomicregion (class in gpsea.model.genome)": [[16, "gpsea.model.genome.GenomicRegion", false]], "genotype (class in gpsea.model)": [[15, "gpsea.model.Genotype", false]], "genotype_for_sample() (gpsea.model.genotyped method)": [[15, "gpsea.model.Genotyped.genotype_for_sample", false]], "genotyped (class in gpsea.model)": [[15, "gpsea.model.Genotyped", false]], "genotypepolypredicate (class in gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.GenotypePolyPredicate", false]], "genotypes (class in gpsea.model)": [[15, "gpsea.model.Genotypes", false]], "genotypes (gpsea.model.genotyped property)": [[15, "gpsea.model.Genotyped.genotypes", false]], "genotypes (gpsea.model.variant property)": [[15, "gpsea.model.Variant.genotypes", false]], "gestational (gpsea.model.timeline attribute)": [[15, "gpsea.model.Timeline.GESTATIONAL", false]], "gestational() (gpsea.model.age static method)": [[15, "gpsea.model.Age.gestational", false]], "gestational_days() (gpsea.model.age static method)": [[15, "gpsea.model.Age.gestational_days", false]], "get_annotations() (gpsea.preprocessing.proteinannotationcache method)": [[17, "gpsea.preprocessing.ProteinAnnotationCache.get_annotations", false]], "get_annotations() (gpsea.preprocessing.variantannotationcache method)": [[17, "gpsea.preprocessing.VariantAnnotationCache.get_annotations", false]], "get_cache_dir_path() (in module gpsea.config)": [[13, "gpsea.config.get_cache_dir_path", false]], "get_categories() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.get_categories", false]], "get_categorizations() (gpsea.analysis.predicate.phenotype.diseasepresencepredicate method)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.get_categorizations", false]], "get_categorizations() (gpsea.analysis.predicate.phenotype.hpopredicate method)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.get_categorizations", false]], "get_categorizations() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.get_categorizations", false]], "get_category() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.get_category", false]], "get_category_name() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.get_category_name", false]], "get_cds_regions() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.get_cds_regions", false]], "get_coding_base_count() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.get_coding_base_count", false]], "get_codon_count() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.get_codon_count", false]], "get_excluded_count() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.get_excluded_count", false]], "get_features_variant_overlaps() (gpsea.model.proteinmetadata method)": [[15, "gpsea.model.ProteinMetadata.get_features_variant_overlaps", false]], "get_five_prime_utrs() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.get_five_prime_utrs", false]], "get_hgvs_cdna_by_tx_id() (gpsea.model.functionalannotationaware method)": [[15, "gpsea.model.FunctionalAnnotationAware.get_hgvs_cdna_by_tx_id", false]], "get_maximum_group_observed_hpo_frequency() (gpsea.analysis.mtc_filter.hpomtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.get_maximum_group_observed_HPO_frequency", false]], "get_number_of_observed_hpo_observations() (gpsea.analysis.mtc_filter.hpomtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.get_number_of_observed_hpo_observations", false]], "get_patient_ids() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.get_patient_ids", false]], "get_preferred_tx_annotation() (gpsea.model.functionalannotationaware method)": [[15, "gpsea.model.FunctionalAnnotationAware.get_preferred_tx_annotation", false]], "get_question() (gpsea.analysis.predicate.genotype.allelecounter method)": [[6, "gpsea.analysis.predicate.genotype.AlleleCounter.get_question", false]], "get_question() (gpsea.analysis.predicate.genotype.variantpredicate method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicate.get_question", false]], "get_response() (gpsea.preprocessing.vvmulticoordinateservice method)": [[17, "gpsea.preprocessing.VVMultiCoordinateService.get_response", false]], "get_three_prime_utrs() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.get_three_prime_utrs", false]], "get_tx_anno_by_tx_id() (gpsea.model.functionalannotationaware method)": [[15, "gpsea.model.FunctionalAnnotationAware.get_tx_anno_by_tx_id", false]], "get_variant_by_key() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.get_variant_by_key", false]], "gpsea": [[0, "module-gpsea", false]], "gpsea.analysis": [[1, "module-gpsea.analysis", false]], "gpsea.analysis.mtc_filter": [[2, "module-gpsea.analysis.mtc_filter", false]], "gpsea.analysis.pcats": [[3, "module-gpsea.analysis.pcats", false]], "gpsea.analysis.pcats.stats": [[4, "module-gpsea.analysis.pcats.stats", false]], "gpsea.analysis.predicate": [[5, "module-gpsea.analysis.predicate", false]], "gpsea.analysis.predicate.genotype": [[6, "module-gpsea.analysis.predicate.genotype", false]], "gpsea.analysis.predicate.phenotype": [[7, "module-gpsea.analysis.predicate.phenotype", false]], "gpsea.analysis.pscore": [[8, "module-gpsea.analysis.pscore", false]], "gpsea.analysis.pscore.stats": [[9, "module-gpsea.analysis.pscore.stats", false]], "gpsea.analysis.temporal": [[10, "module-gpsea.analysis.temporal", false]], "gpsea.analysis.temporal.endpoint": [[11, "module-gpsea.analysis.temporal.endpoint", false]], "gpsea.analysis.temporal.stats": [[12, "module-gpsea.analysis.temporal.stats", false]], "gpsea.config": [[13, "module-gpsea.config", false]], "gpsea.io": [[14, "module-gpsea.io", false]], "gpsea.model": [[15, "module-gpsea.model", false]], "gpsea.model.genome": [[16, "module-gpsea.model.genome", false]], "gpsea.preprocessing": [[17, "module-gpsea.preprocessing", false]], "gpsea.util": [[18, "module-gpsea.util", false]], "gpsea.view": [[19, "module-gpsea.view", false]], "gpseajsondecoder (class in gpsea.io)": [[14, "gpsea.io.GpseaJSONDecoder", false]], "gpseajsonencoder (class in gpsea.io)": [[14, "gpsea.io.GpseaJSONEncoder", false]], "gpseareport (class in gpsea.view)": [[19, "gpsea.view.GpseaReport", false]], "group_labels (gpsea.analysis.predicate.polypredicate property)": [[5, "gpsea.analysis.predicate.PolyPredicate.group_labels", false]], "gt_col (gpsea.analysis.monophenotypeanalysisresult attribute)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.GT_COL", false]], "gt_predicate (gpsea.analysis.analysisresult property)": [[1, "gpsea.analysis.AnalysisResult.gt_predicate", false]], "has_sv_info() (gpsea.model.variantinfo method)": [[15, "gpsea.model.VariantInfo.has_sv_info", false]], "has_variant_coordinates() (gpsea.model.variantinfo method)": [[15, "gpsea.model.VariantInfo.has_variant_coordinates", false]], "hemizygous (gpsea.model.genotype attribute)": [[15, "gpsea.model.Genotype.HEMIZYGOUS", false]], "heterozygous (gpsea.model.genotype attribute)": [[15, "gpsea.model.Genotype.HETEROZYGOUS", false]], "hgvs_cdna (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.hgvs_cdna", false]], "hgvsp (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.hgvsp", false]], "homozygous_alternate (gpsea.model.genotype attribute)": [[15, "gpsea.model.Genotype.HOMOZYGOUS_ALTERNATE", false]], "homozygous_reference (gpsea.model.genotype attribute)": [[15, "gpsea.model.Genotype.HOMOZYGOUS_REFERENCE", false]], "hpo_onset() (in module gpsea.analysis.temporal.endpoint)": [[11, "gpsea.analysis.temporal.endpoint.hpo_onset", false]], "hpomtcfilter (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter", false]], "hpopredicate (class in gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate", false]], "hpotermanalysis (class in gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.HpoTermAnalysis", false]], "hpotermanalysisresult (class in gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.HpoTermAnalysisResult", false]], "identifier (gpsea.model.disease property)": [[15, "gpsea.model.Disease.identifier", false]], "identifier (gpsea.model.genome.genomebuild property)": [[16, "gpsea.model.genome.GenomeBuild.identifier", false]], "identifier (gpsea.model.genome.genomebuildidentifier property)": [[16, "gpsea.model.genome.GenomeBuildIdentifier.identifier", false]], "identifier (gpsea.model.measurement property)": [[15, "gpsea.model.Measurement.identifier", false]], "identifier (gpsea.model.phenotype property)": [[15, "gpsea.model.Phenotype.identifier", false]], "identifier (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.identifier", false]], "imprecisesvfunctionalannotator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.ImpreciseSvFunctionalAnnotator", false]], "imprecisesvinfo (class in gpsea.model)": [[15, "gpsea.model.ImpreciseSvInfo", false]], "incomplete_terminal_codon_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.INCOMPLETE_TERMINAL_CODON_VARIANT", false]], "info (gpsea.model.proteinfeature property)": [[15, "gpsea.model.ProteinFeature.info", false]], "inframe_deletion (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.INFRAME_DELETION", false]], "inframe_insertion (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.INFRAME_INSERTION", false]], "ins (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.INS", false]], "intergenic_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.INTERGENIC_VARIANT", false]], "intron_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.INTRON_VARIANT", false]], "inv (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.INV", false]], "is_alive (gpsea.model.vitalstatus property)": [[15, "gpsea.model.VitalStatus.is_alive", false]], "is_censored (gpsea.analysis.temporal.survival attribute)": [[10, "gpsea.analysis.temporal.Survival.is_censored", false]], "is_coding() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.is_coding", false]], "is_deceased (gpsea.model.vitalstatus property)": [[15, "gpsea.model.VitalStatus.is_deceased", false]], "is_empty() (gpsea.model.genome.region method)": [[16, "gpsea.model.genome.Region.is_empty", false]], "is_female() (gpsea.model.sex method)": [[15, "gpsea.model.Sex.is_female", false]], "is_filtered_out() (gpsea.analysis.mtc_filter.phenotypemtcresult method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.is_filtered_out", false]], "is_gestational (gpsea.model.age property)": [[15, "gpsea.model.Age.is_gestational", false]], "is_large_imprecise_sv() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.is_large_imprecise_sv", false]], "is_male() (gpsea.model.sex method)": [[15, "gpsea.model.Sex.is_male", false]], "is_negative() (gpsea.model.genome.strand method)": [[16, "gpsea.model.genome.Strand.is_negative", false]], "is_observed (gpsea.model.phenotype property)": [[15, "gpsea.model.Phenotype.is_observed", false]], "is_ok() (gpsea.preprocessing.preprocessingvalidationresult method)": [[17, "gpsea.preprocessing.PreprocessingValidationResult.is_ok", false]], "is_passed() (gpsea.analysis.mtc_filter.phenotypemtcresult method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.is_passed", false]], "is_positive() (gpsea.model.genome.strand method)": [[16, "gpsea.model.genome.Strand.is_positive", false]], "is_postnatal (gpsea.model.age property)": [[15, "gpsea.model.Age.is_postnatal", false]], "is_preferred (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.is_preferred", false]], "is_preferred (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.is_preferred", false]], "is_present (gpsea.model.disease property)": [[15, "gpsea.model.Disease.is_present", false]], "is_present (gpsea.model.phenotype property)": [[15, "gpsea.model.Phenotype.is_present", false]], "is_provided() (gpsea.model.sex method)": [[15, "gpsea.model.Sex.is_provided", false]], "is_structural() (gpsea.model.variantcoordinates method)": [[15, "gpsea.model.VariantCoordinates.is_structural", false]], "is_structural() (gpsea.model.variantinfo method)": [[15, "gpsea.model.VariantInfo.is_structural", false]], "is_structural_deletion() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.is_structural_deletion", false]], "is_structural_variant() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.is_structural_variant", false]], "is_unknown (gpsea.model.vitalstatus property)": [[15, "gpsea.model.VitalStatus.is_unknown", false]], "is_unknown() (gpsea.model.sex method)": [[15, "gpsea.model.Sex.is_unknown", false]], "iso8601pt (gpsea.model.age attribute)": [[15, "gpsea.model.Age.ISO8601PT", false]], "label (gpsea.analysis.pscore.measurementphenotypescorer property)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.label", false]], "label (gpsea.model.proteinmetadata property)": [[15, "gpsea.model.ProteinMetadata.label", false]], "label (gpsea.model.samplelabels property)": [[15, "gpsea.model.SampleLabels.label", false]], "label_summary() (gpsea.model.samplelabels method)": [[15, "gpsea.model.SampleLabels.label_summary", false]], "labels (gpsea.model.patient property)": [[15, "gpsea.model.Patient.labels", false]], "last_menstrual_period() (gpsea.model.age static method)": [[15, "gpsea.model.Age.last_menstrual_period", false]], "list_all_diseases() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.list_all_diseases", false]], "list_all_proteins() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.list_all_proteins", false]], "list_all_variants() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.list_all_variants", false]], "list_measurements() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.list_measurements", false]], "list_present_phenotypes() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.list_present_phenotypes", false]], "load_phenopacket_files() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.load_phenopacket_files", false]], "load_phenopacket_folder() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.load_phenopacket_folder", false]], "load_phenopackets() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.load_phenopackets", false]], "logranktest (class in gpsea.analysis.temporal.stats)": [[12, "gpsea.analysis.temporal.stats.LogRankTest", false]], "major_assembly (gpsea.model.genome.genomebuildidentifier property)": [[16, "gpsea.model.genome.GenomeBuildIdentifier.major_assembly", false]], "male (gpsea.model.sex attribute)": [[15, "gpsea.model.Sex.MALE", false]], "mannwhitneystatistic (class in gpsea.analysis.pscore.stats)": [[9, "gpsea.analysis.pscore.stats.MannWhitneyStatistic", false]], "marker_counts (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.marker_counts", false]], "mature_mirna_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.MATURE_MIRNA_VARIANT", false]], "measurement (class in gpsea.model)": [[15, "gpsea.model.Measurement", false]], "measurement_by_id() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.measurement_by_id", false]], "measurementphenotypescorer (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer", false]], "measurements (gpsea.model.patient property)": [[15, "gpsea.model.Patient.measurements", false]], "meta_label (gpsea.model.samplelabels property)": [[15, "gpsea.model.SampleLabels.meta_label", false]], "missense_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.MISSENSE_VARIANT", false]], "mnv (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.MNV", false]], "module": [[0, "module-gpsea", false], [1, "module-gpsea.analysis", false], [2, "module-gpsea.analysis.mtc_filter", false], [3, "module-gpsea.analysis.pcats", false], [4, "module-gpsea.analysis.pcats.stats", false], [5, "module-gpsea.analysis.predicate", false], [6, "module-gpsea.analysis.predicate.genotype", false], [7, "module-gpsea.analysis.predicate.phenotype", false], [8, "module-gpsea.analysis.pscore", false], [9, "module-gpsea.analysis.pscore.stats", false], [10, "module-gpsea.analysis.temporal", false], [11, "module-gpsea.analysis.temporal.endpoint", false], [12, "module-gpsea.analysis.temporal.stats", false], [13, "module-gpsea.config", false], [14, "module-gpsea.io", false], [15, "module-gpsea.model", false], [16, "module-gpsea.model.genome", false], [17, "module-gpsea.preprocessing", false], [18, "module-gpsea.util", false], [19, "module-gpsea.view", false]], "monoallelic_predicate() (in module gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.monoallelic_predicate", false]], "monophenotypeanalysisresult (class in gpsea.analysis)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult", false]], "motif (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.MOTIF", false]], "motifs() (gpsea.model.proteinmetadata method)": [[15, "gpsea.model.ProteinMetadata.motifs", false]], "mtc_correction (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.mtc_correction", false]], "mtc_correction (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.mtc_correction", false]], "mtc_filter_name (gpsea.analysis.pcats.hpotermanalysisresult property)": [[3, "gpsea.analysis.pcats.HpoTermAnalysisResult.mtc_filter_name", false]], "mtc_filter_results (gpsea.analysis.pcats.hpotermanalysisresult property)": [[3, "gpsea.analysis.pcats.HpoTermAnalysisResult.mtc_filter_results", false]], "mtc_issue (gpsea.analysis.mtc_filter.phenotypemtcresult property)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.mtc_issue", false]], "mtcstatsviewer (class in gpsea.view)": [[19, "gpsea.view.MtcStatsViewer", false]], "multiphenotypeanalysis (class in gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysis", false]], "multiphenotypeanalysisresult (class in gpsea.analysis)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult", false]], "multiphenotypeanalysisresult (class in gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult", false]], "n_categorizations() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.n_categorizations", false]], "n_filtered_out() (gpsea.analysis.pcats.hpotermanalysisresult method)": [[3, "gpsea.analysis.pcats.HpoTermAnalysisResult.n_filtered_out", false]], "n_significant_for_alpha() (gpsea.analysis.multiphenotypeanalysisresult method)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.n_significant_for_alpha", false]], "n_significant_for_alpha() (gpsea.analysis.pcats.multiphenotypeanalysisresult method)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.n_significant_for_alpha", false]], "n_usable (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.n_usable", false]], "n_usable (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.n_usable", false]], "name (gpsea.analysis.predicate.phenotype.diseasepresencepredicate property)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.name", false]], "name (gpsea.analysis.predicate.phenotype.hpopredicate property)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.name", false]], "name (gpsea.analysis.pscore.countingphenotypescorer property)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer.name", false]], "name (gpsea.analysis.pscore.devriesphenotypescorer property)": [[8, "gpsea.analysis.pscore.DeVriesPhenotypeScorer.name", false]], "name (gpsea.analysis.pscore.measurementphenotypescorer property)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.name", false]], "name (gpsea.model.disease property)": [[15, "gpsea.model.Disease.name", false]], "name (gpsea.model.featureinfo property)": [[15, "gpsea.model.FeatureInfo.name", false]], "name (gpsea.model.genome.contig property)": [[16, "gpsea.model.genome.Contig.name", false]], "name (gpsea.model.measurement property)": [[15, "gpsea.model.Measurement.name", false]], "negative (gpsea.model.genome.strand attribute)": [[16, "gpsea.model.genome.Strand.NEGATIVE", false]], "nmd_transcript_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.NMD_TRANSCRIPT_VARIANT", false]], "no_call (gpsea.model.genotype attribute)": [[15, "gpsea.model.Genotype.NO_CALL", false]], "no_genotype_has_more_than_one_hpo (gpsea.analysis.mtc_filter.hpomtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.NO_GENOTYPE_HAS_MORE_THAN_ONE_HPO", false]], "non_coding_transcript_exon_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.NON_CODING_TRANSCRIPT_EXON_VARIANT", false]], "non_coding_transcript_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.NON_CODING_TRANSCRIPT_VARIANT", false]], "non_specified_term (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.NON_SPECIFIED_TERM", false]], "noncoding_effects (gpsea.preprocessing.vepfunctionalannotator attribute)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator.NONCODING_EFFECTS", false]], "object_hook() (gpsea.io.gpseajsondecoder static method)": [[14, "gpsea.io.GpseaJSONDecoder.object_hook", false]], "observed (gpsea.model.phenotype property)": [[15, "gpsea.model.Phenotype.observed", false]], "ok (gpsea.analysis.mtc_filter.phenotypemtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcFilter.OK", false]], "ok() (gpsea.analysis.mtc_filter.phenotypemtcresult static method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.ok", false]], "one_genotype_has_zero_hpo_observations() (gpsea.analysis.mtc_filter.hpomtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.one_genotype_has_zero_hpo_observations", false]], "onset (gpsea.model.disease property)": [[15, "gpsea.model.Disease.onset", false]], "onset (gpsea.model.phenotype property)": [[15, "gpsea.model.Phenotype.onset", false]], "open_text_io_handle_for_reading() (in module gpsea.util)": [[18, "gpsea.util.open_text_io_handle_for_reading", false]], "open_text_io_handle_for_writing() (in module gpsea.util)": [[18, "gpsea.util.open_text_io_handle_for_writing", false]], "opposite() (gpsea.model.genome.strand method)": [[16, "gpsea.model.genome.Strand.opposite", false]], "overlapping_exons (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.overlapping_exons", false]], "overlaps_with() (gpsea.model.featureinfo method)": [[15, "gpsea.model.FeatureInfo.overlaps_with", false]], "overlaps_with() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.overlaps_with", false]], "overlaps_with() (gpsea.model.genome.region method)": [[16, "gpsea.model.genome.Region.overlaps_with", false]], "parse_multiple() (gpsea.preprocessing.vvmulticoordinateservice method)": [[17, "gpsea.preprocessing.VVMultiCoordinateService.parse_multiple", false]], "parse_response() (gpsea.preprocessing.vvmulticoordinateservice method)": [[17, "gpsea.preprocessing.VVMultiCoordinateService.parse_response", false]], "parse_uniprot_json() (gpsea.preprocessing.uniprotproteinmetadataservice static method)": [[17, "gpsea.preprocessing.UniprotProteinMetadataService.parse_uniprot_json", false]], "patch (gpsea.model.genome.genomebuildidentifier property)": [[16, "gpsea.model.genome.GenomeBuildIdentifier.patch", false]], "patient (class in gpsea.model)": [[15, "gpsea.model.Patient", false]], "patient_id (gpsea.model.patient property)": [[15, "gpsea.model.Patient.patient_id", false]], "patientcreator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.PatientCreator", false]], "ph_col (gpsea.analysis.monophenotypeanalysisresult attribute)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.PH_COL", false]], "pheno_predicates (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.pheno_predicates", false]], "pheno_predicates (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.pheno_predicates", false]], "phenopacketontologytermonsetparser (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.PhenopacketOntologyTermOnsetParser", false]], "phenopacketpatientcreator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.PhenopacketPatientCreator", false]], "phenopacketvariantcoordinatefinder (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.PhenopacketVariantCoordinateFinder", false]], "phenotype (class in gpsea.model)": [[15, "gpsea.model.Phenotype", false]], "phenotype (gpsea.analysis.monophenotypeanalysisresult property)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.phenotype", false]], "phenotype (gpsea.analysis.predicate.phenotype.diseasepresencepredicate property)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.phenotype", false]], "phenotype (gpsea.analysis.predicate.phenotype.hpopredicate property)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.phenotype", false]], "phenotype (gpsea.analysis.predicate.phenotype.phenotypecategorization property)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypeCategorization.phenotype", false]], "phenotype (gpsea.analysis.predicate.phenotype.phenotypepolypredicate property)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypePolyPredicate.phenotype", false]], "phenotype_by_id() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.phenotype_by_id", false]], "phenotype_scorer() (gpsea.analysis.pscore.phenotypescoreanalysisresult method)": [[8, "gpsea.analysis.pscore.PhenotypeScoreAnalysisResult.phenotype_scorer", false]], "phenotypecategorization (class in gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypeCategorization", false]], "phenotypemtcfilter (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcFilter", false]], "phenotypemtcissue (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcIssue", false]], "phenotypemtcresult (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult", false]], "phenotypepolypredicate (class in gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypePolyPredicate", false]], "phenotypes (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.phenotypes", false]], "phenotypes (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.phenotypes", false]], "phenotypes (gpsea.model.patient property)": [[15, "gpsea.model.Patient.phenotypes", false]], "phenotypescoreanalysis (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.PhenotypeScoreAnalysis", false]], "phenotypescoreanalysisresult (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.PhenotypeScoreAnalysisResult", false]], "phenotypescorer (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.PhenotypeScorer", false]], "phenotypescorestatistic (class in gpsea.analysis.pscore.stats)": [[9, "gpsea.analysis.pscore.stats.PhenotypeScoreStatistic", false]], "plot_boxplots() (gpsea.analysis.pscore.phenotypescoreanalysisresult method)": [[8, "gpsea.analysis.pscore.PhenotypeScoreAnalysisResult.plot_boxplots", false]], "plot_kaplan_meier_curves() (gpsea.analysis.temporal.survivalanalysisresult method)": [[10, "gpsea.analysis.temporal.SurvivalAnalysisResult.plot_kaplan_meier_curves", false]], "policy (gpsea.preprocessing.preprocessingvalidationresult property)": [[17, "gpsea.preprocessing.PreprocessingValidationResult.policy", false]], "polypredicate (class in gpsea.analysis.predicate)": [[5, "gpsea.analysis.predicate.PolyPredicate", false]], "positive (gpsea.model.genome.strand attribute)": [[16, "gpsea.model.genome.Strand.POSITIVE", false]], "possible_results() (gpsea.analysis.mtc_filter.hpomtcfilter method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.possible_results", false]], "possible_results() (gpsea.analysis.mtc_filter.phenotypemtcfilter method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcFilter.possible_results", false]], "possible_results() (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.possible_results", false]], "possible_results() (gpsea.analysis.mtc_filter.usealltermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.UseAllTermsMtcFilter.possible_results", false]], "postnatal (gpsea.model.timeline attribute)": [[15, "gpsea.model.Timeline.POSTNATAL", false]], "postnatal() (gpsea.model.age static method)": [[15, "gpsea.model.Age.postnatal", false]], "postnatal_days() (gpsea.model.age static method)": [[15, "gpsea.model.Age.postnatal_days", false]], "postnatal_years() (gpsea.model.age static method)": [[15, "gpsea.model.Age.postnatal_years", false]], "prepare_hpo_terms_of_interest() (in module gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.prepare_hpo_terms_of_interest", false]], "prepare_predicates_for_terms_of_interest() (in module gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.prepare_predicates_for_terms_of_interest", false]], "preprocessingvalidationresult (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.PreprocessingValidationResult", false]], "present_diseases() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.present_diseases", false]], "present_phenotype_categorization (gpsea.analysis.predicate.phenotype.diseasepresencepredicate property)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.present_phenotype_categorization", false]], "present_phenotype_categorization (gpsea.analysis.predicate.phenotype.hpopredicate property)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.present_phenotype_categorization", false]], "present_phenotype_categorization (gpsea.analysis.predicate.phenotype.phenotypepolypredicate property)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypePolyPredicate.present_phenotype_categorization", false]], "present_phenotype_category (gpsea.analysis.predicate.phenotype.phenotypepolypredicate property)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypePolyPredicate.present_phenotype_category", false]], "present_phenotypes() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.present_phenotypes", false]], "process() (gpsea.preprocessing.cohortcreator method)": [[17, "gpsea.preprocessing.CohortCreator.process", false]], "process() (gpsea.preprocessing.patientcreator method)": [[17, "gpsea.preprocessing.PatientCreator.process", false]], "process() (gpsea.preprocessing.phenopacketontologytermonsetparser method)": [[17, "gpsea.preprocessing.PhenopacketOntologyTermOnsetParser.process", false]], "process() (gpsea.preprocessing.phenopacketpatientcreator method)": [[17, "gpsea.preprocessing.PhenopacketPatientCreator.process", false]], "process() (gpsea.view.cohortvariantviewer method)": [[19, "gpsea.view.CohortVariantViewer.process", false]], "process() (gpsea.view.cohortviewer method)": [[19, "gpsea.view.CohortViewer.process", false]], "process() (gpsea.view.diseaseviewer method)": [[19, "gpsea.view.DiseaseViewer.process", false]], "process() (gpsea.view.mtcstatsviewer method)": [[19, "gpsea.view.MtcStatsViewer.process", false]], "process() (gpsea.view.proteinvariantviewer method)": [[19, "gpsea.view.ProteinVariantViewer.process", false]], "process_response() (gpsea.preprocessing.vepfunctionalannotator method)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator.process_response", false]], "protcachingmetadataservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.ProtCachingMetadataService", false]], "protein_altering_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.PROTEIN_ALTERING_VARIANT", false]], "protein_effect_location (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.protein_effect_location", false]], "protein_feature() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.protein_feature", false]], "protein_feature_ends (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_feature_ends", false]], "protein_feature_names (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_feature_names", false]], "protein_feature_starts (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_feature_starts", false]], "protein_feature_type() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.protein_feature_type", false]], "protein_feature_types (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_feature_types", false]], "protein_features (gpsea.model.proteinmetadata property)": [[15, "gpsea.model.ProteinMetadata.protein_features", false]], "protein_id (gpsea.model.proteinmetadata property)": [[15, "gpsea.model.ProteinMetadata.protein_id", false]], "protein_id (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.protein_id", false]], "protein_id (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_id", false]], "protein_length (gpsea.model.proteinmetadata property)": [[15, "gpsea.model.ProteinMetadata.protein_length", false]], "protein_length (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_length", false]], "protein_metadata (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_metadata", false]], "proteinannotationcache (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.ProteinAnnotationCache", false]], "proteinfeature (class in gpsea.model)": [[15, "gpsea.model.ProteinFeature", false]], "proteinmetadata (class in gpsea.model)": [[15, "gpsea.model.ProteinMetadata", false]], "proteinmetadataservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.ProteinMetadataService", false]], "proteinvariantviewer (class in gpsea.view)": [[19, "gpsea.view.ProteinVariantViewer", false]], "proteinvisualizable (class in gpsea.view)": [[19, "gpsea.view.ProteinVisualizable", false]], "proteinvisualizer (class in gpsea.view)": [[19, "gpsea.view.ProteinVisualizer", false]], "pval (gpsea.analysis.monophenotypeanalysisresult property)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.pval", false]], "pvals (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.pvals", false]], "pvals (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.pvals", false]], "reason (gpsea.analysis.mtc_filter.phenotypemtcissue attribute)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcIssue.reason", false]], "reason (gpsea.analysis.mtc_filter.phenotypemtcresult property)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.reason", false]], "ref (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.ref", false]], "ref_length() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.ref_length", false]], "refseq_name (gpsea.model.genome.contig property)": [[16, "gpsea.model.genome.Contig.refseq_name", false]], "region (class in gpsea.model.genome)": [[16, "gpsea.model.genome.Region", false]], "region (gpsea.model.featureinfo property)": [[15, "gpsea.model.FeatureInfo.region", false]], "region (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.REGION", false]], "region (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.region", false]], "region (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.region", false]], "region() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.region", false]], "regions() (gpsea.model.proteinmetadata method)": [[15, "gpsea.model.ProteinMetadata.regions", false]], "regulatory_region_ablation (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.REGULATORY_REGION_ABLATION", false]], "regulatory_region_amplification (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.REGULATORY_REGION_AMPLIFICATION", false]], "regulatory_region_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.REGULATORY_REGION_VARIANT", false]], "repeat (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.REPEAT", false]], "repeats() (gpsea.model.proteinmetadata method)": [[15, "gpsea.model.ProteinMetadata.repeats", false]], "same_count_as_the_only_child (gpsea.analysis.mtc_filter.hpomtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.SAME_COUNT_AS_THE_ONLY_CHILD", false]], "samplelabels (class in gpsea.model)": [[15, "gpsea.model.SampleLabels", false]], "score() (gpsea.analysis.pscore.countingphenotypescorer method)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer.score", false]], "score() (gpsea.analysis.pscore.devriesphenotypescorer method)": [[8, "gpsea.analysis.pscore.DeVriesPhenotypeScorer.score", false]], "score() (gpsea.analysis.pscore.measurementphenotypescorer method)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.score", false]], "score() (gpsea.analysis.pscore.phenotypescorer method)": [[8, "gpsea.analysis.pscore.PhenotypeScorer.score", false]], "sequence_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SEQUENCE_VARIANT", false]], "sex (class in gpsea.model)": [[15, "gpsea.model.Sex", false]], "sex (gpsea.model.patient property)": [[15, "gpsea.model.Patient.sex", false]], "sex_predicate() (in module gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.sex_predicate", false]], "significant_phenotype_indices() (gpsea.analysis.multiphenotypeanalysisresult method)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.significant_phenotype_indices", false]], "significant_phenotype_indices() (gpsea.analysis.pcats.multiphenotypeanalysisresult method)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.significant_phenotype_indices", false]], "single() (gpsea.model.genotypes static method)": [[15, "gpsea.model.Genotypes.single", false]], "skipping_general_term (gpsea.analysis.mtc_filter.hpomtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.SKIPPING_GENERAL_TERM", false]], "skipping_non_phenotype_term (gpsea.analysis.mtc_filter.hpomtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.SKIPPING_NON_PHENOTYPE_TERM", false]], "skipping_since_one_genotype_had_zero_observations (gpsea.analysis.mtc_filter.hpomtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.SKIPPING_SINCE_ONE_GENOTYPE_HAD_ZERO_OBSERVATIONS", false]], "snv (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.SNV", false]], "some_cell_has_greater_than_one_count() (gpsea.analysis.mtc_filter.hpomtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.some_cell_has_greater_than_one_count", false]], "specifiedtermsmtcfilter (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter", false]], "splice_acceptor_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_ACCEPTOR_VARIANT", false]], "splice_donor_5th_base_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_DONOR_5TH_BASE_VARIANT", false]], "splice_donor_region_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_DONOR_REGION_VARIANT", false]], "splice_donor_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_DONOR_VARIANT", false]], "splice_polypyrimidine_tract_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_POLYPYRIMIDINE_TRACT_VARIANT", false]], "splice_region_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_REGION_VARIANT", false]], "start (gpsea.model.featureinfo property)": [[15, "gpsea.model.FeatureInfo.start", false]], "start (gpsea.model.genome.region property)": [[16, "gpsea.model.genome.Region.start", false]], "start (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.start", false]], "start_lost (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.START_LOST", false]], "start_on_strand() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.start_on_strand", false]], "start_retained_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.START_RETAINED_VARIANT", false]], "statistic (gpsea.analysis.analysisresult property)": [[1, "gpsea.analysis.AnalysisResult.statistic", false]], "status (class in gpsea.model)": [[15, "gpsea.model.Status", false]], "status (gpsea.model.vitalstatus attribute)": [[15, "gpsea.model.VitalStatus.status", false]], "stop_gained (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.STOP_GAINED", false]], "stop_lost (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.STOP_LOST", false]], "stop_retained_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.STOP_RETAINED_VARIANT", false]], "store_annotations() (gpsea.preprocessing.proteinannotationcache method)": [[17, "gpsea.preprocessing.ProteinAnnotationCache.store_annotations", false]], "store_annotations() (gpsea.preprocessing.variantannotationcache method)": [[17, "gpsea.preprocessing.VariantAnnotationCache.store_annotations", false]], "strand (class in gpsea.model.genome)": [[16, "gpsea.model.genome.Strand", false]], "strand (gpsea.model.genome.genomicregion property)": [[16, "gpsea.model.genome.GenomicRegion.strand", false]], "strand (gpsea.model.genome.stranded property)": [[16, "gpsea.model.genome.Stranded.strand", false]], "stranded (class in gpsea.model.genome)": [[16, "gpsea.model.genome.Stranded", false]], "structural_so_id_to_display() (gpsea.model.varianteffect static method)": [[15, "gpsea.model.VariantEffect.structural_so_id_to_display", false]], "structural_type (gpsea.model.imprecisesvinfo property)": [[15, "gpsea.model.ImpreciseSvInfo.structural_type", false]], "structural_type() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.structural_type", false]], "summarize() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.summarize", false]], "summarize() (gpsea.preprocessing.preprocessingvalidationresult method)": [[17, "gpsea.preprocessing.PreprocessingValidationResult.summarize", false]], "summarize_groups() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.summarize_groups", false]], "summarize_hpo_analysis() (in module gpsea.view)": [[19, "gpsea.view.summarize_hpo_analysis", false]], "supports_shape (gpsea.analysis.pcats.stats.countstatistic property)": [[4, "gpsea.analysis.pcats.stats.CountStatistic.supports_shape", false]], "supports_shape (gpsea.analysis.pcats.stats.fisherexacttest property)": [[4, "gpsea.analysis.pcats.stats.FisherExactTest.supports_shape", false]], "survival (class in gpsea.analysis.temporal)": [[10, "gpsea.analysis.temporal.Survival", false]], "survivalanalysis (class in gpsea.analysis.temporal)": [[10, "gpsea.analysis.temporal.SurvivalAnalysis", false]], "survivalanalysisresult (class in gpsea.analysis.temporal)": [[10, "gpsea.analysis.temporal.SurvivalAnalysisResult", false]], "survivalstatistic (class in gpsea.analysis.temporal.stats)": [[12, "gpsea.analysis.temporal.stats.SurvivalStatistic", false]], "sv_info (gpsea.model.variantinfo property)": [[15, "gpsea.model.VariantInfo.sv_info", false]], "symbol (gpsea.model.genome.strand property)": [[16, "gpsea.model.genome.Strand.symbol", false]], "synonymous_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SYNONYMOUS_VARIANT", false]], "term_id (gpsea.analysis.pscore.measurementphenotypescorer property)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.term_id", false]], "terms_to_test (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter property)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.terms_to_test", false]], "test() (gpsea.analysis.predicate.genotype.variantpredicate method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicate.test", false]], "test() (gpsea.analysis.predicate.phenotype.diseasepresencepredicate method)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.test", false]], "test() (gpsea.analysis.predicate.phenotype.hpopredicate method)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.test", false]], "test() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.test", false]], "test_result (gpsea.model.measurement property)": [[15, "gpsea.model.Measurement.test_result", false]], "tf_binding_site_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.TF_BINDING_SITE_VARIANT", false]], "tfbs_ablation (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.TFBS_ABLATION", false]], "tfbs_amplification (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.TFBS_AMPLIFICATION", false]], "three_prime_utr_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.THREE_PRIME_UTR_VARIANT", false]], "timeline (class in gpsea.model)": [[15, "gpsea.model.Timeline", false]], "timeline (gpsea.model.age property)": [[15, "gpsea.model.Age.timeline", false]], "to_display() (gpsea.model.varianteffect method)": [[15, "gpsea.model.VariantEffect.to_display", false]], "to_negative_strand() (gpsea.model.genome.transposable method)": [[16, "gpsea.model.genome.Transposable.to_negative_strand", false]], "to_opposite_strand() (gpsea.model.genome.transposable method)": [[16, "gpsea.model.genome.Transposable.to_opposite_strand", false]], "to_positive_strand() (gpsea.model.genome.transposable method)": [[16, "gpsea.model.genome.Transposable.to_positive_strand", false]], "to_string() (gpsea.model.proteinfeature method)": [[15, "gpsea.model.ProteinFeature.to_string", false]], "total_patient_count (gpsea.model.cohort property)": [[15, "gpsea.model.Cohort.total_patient_count", false]], "total_tests (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.total_tests", false]], "total_tests (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.total_tests", false]], "transcript() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.transcript", false]], "transcript_ablation (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.TRANSCRIPT_ABLATION", false]], "transcript_amplification (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.TRANSCRIPT_AMPLIFICATION", false]], "transcript_coordinates (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.transcript_coordinates", false]], "transcript_id (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.transcript_id", false]], "transcript_id (gpsea.model.transcriptinfoaware property)": [[15, "gpsea.model.TranscriptInfoAware.transcript_id", false]], "transcript_id (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.transcript_id", false]], "transcriptannotation (class in gpsea.model)": [[15, "gpsea.model.TranscriptAnnotation", false]], "transcriptcoordinates (class in gpsea.model)": [[15, "gpsea.model.TranscriptCoordinates", false]], "transcriptcoordinateservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.TranscriptCoordinateService", false]], "transcriptinfoaware (class in gpsea.model)": [[15, "gpsea.model.TranscriptInfoAware", false]], "translocation (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.TRANSLOCATION", false]], "transposable (class in gpsea.model.genome)": [[16, "gpsea.model.genome.Transposable", false]], "transpose_coordinate() (in module gpsea.model.genome)": [[16, "gpsea.model.genome.transpose_coordinate", false]], "true() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.true", false]], "tteststatistic (class in gpsea.analysis.pscore.stats)": [[9, "gpsea.analysis.pscore.stats.TTestStatistic", false]], "tx_annotations (gpsea.model.functionalannotationaware property)": [[15, "gpsea.model.FunctionalAnnotationAware.tx_annotations", false]], "tx_annotations (gpsea.model.variant property)": [[15, "gpsea.model.Variant.tx_annotations", false]], "ucsc_name (gpsea.model.genome.contig property)": [[16, "gpsea.model.genome.Contig.ucsc_name", false]], "uniprotproteinmetadataservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.UniprotProteinMetadataService", false]], "unit (gpsea.model.measurement property)": [[15, "gpsea.model.Measurement.unit", false]], "unknown (gpsea.model.status attribute)": [[15, "gpsea.model.Status.UNKNOWN", false]], "unknown_sex (gpsea.model.sex attribute)": [[15, "gpsea.model.Sex.UNKNOWN_SEX", false]], "upstream_gene_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.UPSTREAM_GENE_VARIANT", false]], "usealltermsmtcfilter (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.UseAllTermsMtcFilter", false]], "value (gpsea.analysis.temporal.survival attribute)": [[10, "gpsea.analysis.temporal.Survival.value", false]], "varcachingfunctionalannotator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VarCachingFunctionalAnnotator", false]], "variable_name (gpsea.analysis.predicate.phenotype.diseasepresencepredicate property)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.variable_name", false]], "variable_name (gpsea.analysis.predicate.phenotype.hpopredicate property)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.variable_name", false]], "variable_name (gpsea.analysis.pscore.countingphenotypescorer property)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer.variable_name", false]], "variable_name (gpsea.analysis.pscore.devriesphenotypescorer property)": [[8, "gpsea.analysis.pscore.DeVriesPhenotypeScorer.variable_name", false]], "variable_name (gpsea.analysis.pscore.measurementphenotypescorer property)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.variable_name", false]], "variant (class in gpsea.model)": [[15, "gpsea.model.Variant", false]], "variant_class (gpsea.model.imprecisesvinfo property)": [[15, "gpsea.model.ImpreciseSvInfo.variant_class", false]], "variant_class (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.variant_class", false]], "variant_class (gpsea.model.variantinfo property)": [[15, "gpsea.model.VariantInfo.variant_class", false]], "variant_class() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.variant_class", false]], "variant_coordinates (gpsea.model.variantinfo property)": [[15, "gpsea.model.VariantInfo.variant_coordinates", false]], "variant_effect() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.variant_effect", false]], "variant_effect_count_by_tx() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.variant_effect_count_by_tx", false]], "variant_effects (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.variant_effects", false]], "variant_effects (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.variant_effects", false]], "variant_info (gpsea.model.variant property)": [[15, "gpsea.model.Variant.variant_info", false]], "variant_info (gpsea.model.variantinfoaware property)": [[15, "gpsea.model.VariantInfoAware.variant_info", false]], "variant_key (gpsea.model.imprecisesvinfo property)": [[15, "gpsea.model.ImpreciseSvInfo.variant_key", false]], "variant_key (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.variant_key", false]], "variant_key (gpsea.model.variantinfo property)": [[15, "gpsea.model.VariantInfo.variant_key", false]], "variant_key() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.variant_key", false]], "variant_locations (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.variant_locations", false]], "variant_locations_counted_absolute (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.variant_locations_counted_absolute", false]], "variantannotationcache (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VariantAnnotationCache", false]], "variantclass (class in gpsea.model)": [[15, "gpsea.model.VariantClass", false]], "variantcoordinatefinder (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VariantCoordinateFinder", false]], "variantcoordinates (class in gpsea.model)": [[15, "gpsea.model.VariantCoordinates", false]], "varianteffect (class in gpsea.model)": [[15, "gpsea.model.VariantEffect", false]], "variantformatter (class in gpsea.view)": [[19, "gpsea.view.VariantFormatter", false]], "variantinfo (class in gpsea.model)": [[15, "gpsea.model.VariantInfo", false]], "variantinfoaware (class in gpsea.model)": [[15, "gpsea.model.VariantInfoAware", false]], "variantpredicate (class in gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicate", false]], "variantpredicates (class in gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates", false]], "variants (gpsea.model.patient property)": [[15, "gpsea.model.Patient.variants", false]], "varianttranscriptvisualizer (class in gpsea.view)": [[19, "gpsea.view.VariantTranscriptVisualizer", false]], "vepfunctionalannotator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator", false]], "verify_term_id() (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.verify_term_id", false]], "vital_status (gpsea.model.patient property)": [[15, "gpsea.model.Patient.vital_status", false]], "vitalstatus (class in gpsea.model)": [[15, "gpsea.model.VitalStatus", false]], "vvhgvsvariantcoordinatefinder (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VVHgvsVariantCoordinateFinder", false]], "vvmulticoordinateservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VVMultiCoordinateService", false]], "with_cache_folder() (gpsea.preprocessing.varcachingfunctionalannotator static method)": [[17, "gpsea.preprocessing.VarCachingFunctionalAnnotator.with_cache_folder", false]], "with_strand() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.with_strand", false]], "with_strand() (gpsea.model.genome.transposable method)": [[16, "gpsea.model.genome.Transposable.with_strand", false]], "wrap_scoring_function() (gpsea.analysis.pscore.phenotypescorer static method)": [[8, "gpsea.analysis.pscore.PhenotypeScorer.wrap_scoring_function", false]], "write() (gpsea.view.gpseareport method)": [[19, "gpsea.view.GpseaReport.write", false]]}, "objects": {"": [[0, 0, 0, "-", "gpsea"]], "gpsea": [[1, 0, 0, "-", "analysis"], [13, 0, 0, "-", "config"], [14, 0, 0, "-", "io"], [15, 0, 0, "-", "model"], [17, 0, 0, "-", "preprocessing"], [18, 0, 0, "-", "util"], [19, 0, 0, "-", "view"]], "gpsea.analysis": [[1, 1, 1, "", "AnalysisResult"], [1, 1, 1, "", "MonoPhenotypeAnalysisResult"], [1, 1, 1, "", "MultiPhenotypeAnalysisResult"], [2, 0, 0, "-", "mtc_filter"], [3, 0, 0, "-", "pcats"], [5, 0, 0, "-", "predicate"], [8, 0, 0, "-", "pscore"], [10, 0, 0, "-", "temporal"]], "gpsea.analysis.AnalysisResult": [[1, 2, 1, "", "gt_predicate"], [1, 2, 1, "", "statistic"]], "gpsea.analysis.MonoPhenotypeAnalysisResult": [[1, 3, 1, "", "DATA_COLUMNS"], [1, 3, 1, "", "GT_COL"], [1, 3, 1, "", "PH_COL"], [1, 4, 1, "", "complete_records"], [1, 2, 1, "", "data"], [1, 2, 1, "", "phenotype"], [1, 2, 1, "", "pval"]], "gpsea.analysis.MultiPhenotypeAnalysisResult": [[1, 2, 1, "", "all_counts"], [1, 2, 1, "", "corrected_pvals"], [1, 2, 1, "", "mtc_correction"], [1, 4, 1, "", "n_significant_for_alpha"], [1, 2, 1, "", "n_usable"], [1, 2, 1, "", "pheno_predicates"], [1, 2, 1, "", "phenotypes"], [1, 2, 1, "", "pvals"], [1, 4, 1, "", "significant_phenotype_indices"], [1, 2, 1, "", "total_tests"]], "gpsea.analysis.mtc_filter": [[2, 1, 1, "", "HpoMtcFilter"], [2, 1, 1, "", "PhenotypeMtcFilter"], [2, 1, 1, "", "PhenotypeMtcIssue"], [2, 1, 1, "", "PhenotypeMtcResult"], [2, 1, 1, "", "SpecifiedTermsMtcFilter"], [2, 1, 1, "", "UseAllTermsMtcFilter"]], "gpsea.analysis.mtc_filter.HpoMtcFilter": [[2, 3, 1, "", "NO_GENOTYPE_HAS_MORE_THAN_ONE_HPO"], [2, 3, 1, "", "SAME_COUNT_AS_THE_ONLY_CHILD"], [2, 3, 1, "", "SKIPPING_GENERAL_TERM"], [2, 3, 1, "", "SKIPPING_NON_PHENOTYPE_TERM"], [2, 3, 1, "", "SKIPPING_SINCE_ONE_GENOTYPE_HAD_ZERO_OBSERVATIONS"], [2, 4, 1, "", "default_filter"], [2, 4, 1, "", "filter"], [2, 4, 1, "", "filter_method_name"], [2, 4, 1, "", "get_maximum_group_observed_HPO_frequency"], [2, 4, 1, "", "get_number_of_observed_hpo_observations"], [2, 4, 1, "", "one_genotype_has_zero_hpo_observations"], [2, 4, 1, "", "possible_results"], [2, 4, 1, "", "some_cell_has_greater_than_one_count"]], "gpsea.analysis.mtc_filter.PhenotypeMtcFilter": [[2, 3, 1, "", "OK"], [2, 4, 1, "", "filter"], [2, 4, 1, "", "filter_method_name"], [2, 4, 1, "", "possible_results"]], "gpsea.analysis.mtc_filter.PhenotypeMtcIssue": [[2, 3, 1, "", "code"], [2, 3, 1, "", "reason"]], "gpsea.analysis.mtc_filter.PhenotypeMtcResult": [[2, 4, 1, "", "fail"], [2, 4, 1, "", "is_filtered_out"], [2, 4, 1, "", "is_passed"], [2, 2, 1, "", "mtc_issue"], [2, 4, 1, "", "ok"], [2, 2, 1, "", "reason"]], "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter": [[2, 3, 1, "", "NON_SPECIFIED_TERM"], [2, 4, 1, "", "filter"], [2, 4, 1, "", "filter_method_name"], [2, 4, 1, "", "possible_results"], [2, 2, 1, "", "terms_to_test"], [2, 4, 1, "", "verify_term_id"]], "gpsea.analysis.mtc_filter.UseAllTermsMtcFilter": [[2, 4, 1, "", "filter"], [2, 4, 1, "", "filter_method_name"], [2, 4, 1, "", "possible_results"]], "gpsea.analysis.pcats": [[3, 1, 1, "", "DiseaseAnalysis"], [3, 1, 1, "", "HpoTermAnalysis"], [3, 1, 1, "", "HpoTermAnalysisResult"], [3, 1, 1, "", "MultiPhenotypeAnalysis"], [3, 1, 1, "", "MultiPhenotypeAnalysisResult"], [3, 5, 1, "", "apply_predicates_on_patients"], [4, 0, 0, "-", "stats"]], "gpsea.analysis.pcats.HpoTermAnalysisResult": [[3, 2, 1, "", "mtc_filter_name"], [3, 2, 1, "", "mtc_filter_results"], [3, 4, 1, "", "n_filtered_out"]], "gpsea.analysis.pcats.MultiPhenotypeAnalysis": [[3, 4, 1, "", "compare_genotype_vs_phenotypes"]], "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult": [[3, 2, 1, "", "all_counts"], [3, 2, 1, "", "corrected_pvals"], [3, 2, 1, "", "mtc_correction"], [3, 4, 1, "", "n_significant_for_alpha"], [3, 2, 1, "", "n_usable"], [3, 2, 1, "", "pheno_predicates"], [3, 2, 1, "", "phenotypes"], [3, 2, 1, "", "pvals"], [3, 4, 1, "", "significant_phenotype_indices"], [3, 2, 1, "", "total_tests"]], "gpsea.analysis.pcats.stats": [[4, 1, 1, "", "CountStatistic"], [4, 1, 1, "", "FisherExactTest"]], "gpsea.analysis.pcats.stats.CountStatistic": [[4, 4, 1, "", "compute_pval"], [4, 2, 1, "", "supports_shape"]], "gpsea.analysis.pcats.stats.FisherExactTest": [[4, 4, 1, "", "compute_pval"], [4, 2, 1, "", "supports_shape"]], "gpsea.analysis.predicate": [[5, 1, 1, "", "PolyPredicate"], [6, 0, 0, "-", "genotype"], [7, 0, 0, "-", "phenotype"]], "gpsea.analysis.predicate.PolyPredicate": [[5, 4, 1, "", "get_categories"], [5, 4, 1, "", "get_categorizations"], [5, 4, 1, "", "get_category"], [5, 4, 1, "", "get_category_name"], [5, 2, 1, "", "group_labels"], [5, 4, 1, "", "n_categorizations"], [5, 4, 1, "", "summarize"], [5, 4, 1, "", "summarize_groups"], [5, 4, 1, "", "test"]], "gpsea.analysis.predicate.genotype": [[6, 1, 1, "", "AlleleCounter"], [6, 1, 1, "", "GenotypePolyPredicate"], [6, 1, 1, "", "VariantPredicate"], [6, 1, 1, "", "VariantPredicates"], [6, 5, 1, "", "allele_count"], [6, 5, 1, "", "biallelic_predicate"], [6, 5, 1, "", "diagnosis_predicate"], [6, 5, 1, "", "monoallelic_predicate"], [6, 5, 1, "", "sex_predicate"]], "gpsea.analysis.predicate.genotype.AlleleCounter": [[6, 4, 1, "", "count"], [6, 4, 1, "", "get_question"]], "gpsea.analysis.predicate.genotype.VariantPredicate": [[6, 4, 1, "", "get_question"], [6, 4, 1, "", "test"]], "gpsea.analysis.predicate.genotype.VariantPredicates": [[6, 4, 1, "", "all"], [6, 4, 1, "", "any"], [6, 4, 1, "", "change_length"], [6, 4, 1, "", "exon"], [6, 4, 1, "", "gene"], [6, 4, 1, "", "is_large_imprecise_sv"], [6, 4, 1, "", "is_structural_deletion"], [6, 4, 1, "", "is_structural_variant"], [6, 4, 1, "", "protein_feature"], [6, 4, 1, "", "protein_feature_type"], [6, 4, 1, "", "ref_length"], [6, 4, 1, "", "region"], [6, 4, 1, "", "structural_type"], [6, 4, 1, "", "transcript"], [6, 4, 1, "", "true"], [6, 4, 1, "", "variant_class"], [6, 4, 1, "", "variant_effect"], [6, 4, 1, "", "variant_key"]], "gpsea.analysis.predicate.phenotype": [[7, 1, 1, "", "DiseasePresencePredicate"], [7, 1, 1, "", "HpoPredicate"], [7, 1, 1, "", "PhenotypeCategorization"], [7, 1, 1, "", "PhenotypePolyPredicate"], [7, 5, 1, "", "prepare_hpo_terms_of_interest"], [7, 5, 1, "", "prepare_predicates_for_terms_of_interest"]], "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate": [[7, 2, 1, "", "description"], [7, 4, 1, "", "get_categorizations"], [7, 2, 1, "", "name"], [7, 2, 1, "", "phenotype"], [7, 2, 1, "", "present_phenotype_categorization"], [7, 4, 1, "", "test"], [7, 2, 1, "", "variable_name"]], "gpsea.analysis.predicate.phenotype.HpoPredicate": [[7, 2, 1, "", "description"], [7, 4, 1, "", "get_categorizations"], [7, 2, 1, "", "name"], [7, 2, 1, "", "phenotype"], [7, 2, 1, "", "present_phenotype_categorization"], [7, 4, 1, "", "test"], [7, 2, 1, "", "variable_name"]], "gpsea.analysis.predicate.phenotype.PhenotypeCategorization": [[7, 2, 1, "", "phenotype"]], "gpsea.analysis.predicate.phenotype.PhenotypePolyPredicate": [[7, 2, 1, "", "phenotype"], [7, 2, 1, "", "present_phenotype_categorization"], [7, 2, 1, "", "present_phenotype_category"]], "gpsea.analysis.pscore": [[8, 1, 1, "", "CountingPhenotypeScorer"], [8, 1, 1, "", "DeVriesPhenotypeScorer"], [8, 1, 1, "", "MeasurementPhenotypeScorer"], [8, 1, 1, "", "PhenotypeScoreAnalysis"], [8, 1, 1, "", "PhenotypeScoreAnalysisResult"], [8, 1, 1, "", "PhenotypeScorer"], [9, 0, 0, "-", "stats"]], "gpsea.analysis.pscore.CountingPhenotypeScorer": [[8, 2, 1, "", "description"], [8, 4, 1, "", "from_query_curies"], [8, 2, 1, "", "name"], [8, 4, 1, "", "score"], [8, 2, 1, "", "variable_name"]], "gpsea.analysis.pscore.DeVriesPhenotypeScorer": [[8, 2, 1, "", "description"], [8, 2, 1, "", "name"], [8, 4, 1, "", "score"], [8, 2, 1, "", "variable_name"]], "gpsea.analysis.pscore.MeasurementPhenotypeScorer": [[8, 2, 1, "", "description"], [8, 4, 1, "", "from_measurement_id"], [8, 2, 1, "", "label"], [8, 2, 1, "", "name"], [8, 4, 1, "", "score"], [8, 2, 1, "", "term_id"], [8, 2, 1, "", "variable_name"]], "gpsea.analysis.pscore.PhenotypeScoreAnalysis": [[8, 4, 1, "", "compare_genotype_vs_phenotype_score"]], "gpsea.analysis.pscore.PhenotypeScoreAnalysisResult": [[8, 4, 1, "", "phenotype_scorer"], [8, 4, 1, "", "plot_boxplots"]], "gpsea.analysis.pscore.PhenotypeScorer": [[8, 4, 1, "", "score"], [8, 4, 1, "", "wrap_scoring_function"]], "gpsea.analysis.pscore.stats": [[9, 1, 1, "", "MannWhitneyStatistic"], [9, 1, 1, "", "PhenotypeScoreStatistic"], [9, 1, 1, "", "TTestStatistic"]], "gpsea.analysis.pscore.stats.MannWhitneyStatistic": [[9, 4, 1, "", "compute_pval"]], "gpsea.analysis.pscore.stats.PhenotypeScoreStatistic": [[9, 4, 1, "", "compute_pval"]], "gpsea.analysis.pscore.stats.TTestStatistic": [[9, 4, 1, "", "compute_pval"]], "gpsea.analysis.temporal": [[10, 1, 1, "", "Endpoint"], [10, 1, 1, "", "Survival"], [10, 1, 1, "", "SurvivalAnalysis"], [10, 1, 1, "", "SurvivalAnalysisResult"], [11, 0, 0, "-", "endpoint"], [12, 0, 0, "-", "stats"]], "gpsea.analysis.temporal.Endpoint": [[10, 4, 1, "", "compute_survival"]], "gpsea.analysis.temporal.Survival": [[10, 3, 1, "", "is_censored"], [10, 3, 1, "", "value"]], "gpsea.analysis.temporal.SurvivalAnalysis": [[10, 4, 1, "", "compare_genotype_vs_survival"]], "gpsea.analysis.temporal.SurvivalAnalysisResult": [[10, 2, 1, "", "endpoint"], [10, 4, 1, "", "plot_kaplan_meier_curves"]], "gpsea.analysis.temporal.endpoint": [[11, 5, 1, "", "death"], [11, 5, 1, "", "disease_onset"], [11, 5, 1, "", "hpo_onset"]], "gpsea.analysis.temporal.stats": [[12, 1, 1, "", "LogRankTest"], [12, 1, 1, "", "SurvivalStatistic"]], "gpsea.analysis.temporal.stats.LogRankTest": [[12, 4, 1, "", "compute_pval"]], "gpsea.analysis.temporal.stats.SurvivalStatistic": [[12, 4, 1, "", "compute_pval"]], "gpsea.config": [[13, 6, 1, "", "CACHE_ENV"], [13, 6, 1, "", "DEFAULT_CACHE_PATH"], [13, 5, 1, "", "get_cache_dir_path"]], "gpsea.io": [[14, 1, 1, "", "GpseaJSONDecoder"], [14, 1, 1, "", "GpseaJSONEncoder"]], "gpsea.io.GpseaJSONDecoder": [[14, 4, 1, "", "object_hook"]], "gpsea.io.GpseaJSONEncoder": [[14, 4, 1, "", "default"]], "gpsea.model": [[15, 1, 1, "", "Age"], [15, 1, 1, "", "Cohort"], [15, 1, 1, "", "Disease"], [15, 1, 1, "", "FeatureInfo"], [15, 1, 1, "", "FeatureType"], [15, 1, 1, "", "FunctionalAnnotationAware"], [15, 1, 1, "", "Genotype"], [15, 1, 1, "", "Genotyped"], [15, 1, 1, "", "Genotypes"], [15, 1, 1, "", "ImpreciseSvInfo"], [15, 1, 1, "", "Measurement"], [15, 1, 1, "", "Patient"], [15, 1, 1, "", "Phenotype"], [15, 1, 1, "", "ProteinFeature"], [15, 1, 1, "", "ProteinMetadata"], [15, 1, 1, "", "SampleLabels"], [15, 1, 1, "", "Sex"], [15, 1, 1, "", "Status"], [15, 1, 1, "", "Timeline"], [15, 1, 1, "", "TranscriptAnnotation"], [15, 1, 1, "", "TranscriptCoordinates"], [15, 1, 1, "", "TranscriptInfoAware"], [15, 1, 1, "", "Variant"], [15, 1, 1, "", "VariantClass"], [15, 1, 1, "", "VariantCoordinates"], [15, 1, 1, "", "VariantEffect"], [15, 1, 1, "", "VariantInfo"], [15, 1, 1, "", "VariantInfoAware"], [15, 1, 1, "", "VitalStatus"], [16, 0, 0, "-", "genome"]], "gpsea.model.Age": [[15, 3, 1, "", "DAYS_IN_MONTH"], [15, 3, 1, "", "DAYS_IN_WEEK"], [15, 3, 1, "", "DAYS_IN_YEAR"], [15, 3, 1, "", "ISO8601PT"], [15, 4, 1, "", "birth"], [15, 2, 1, "", "days"], [15, 4, 1, "", "from_iso8601_period"], [15, 4, 1, "", "gestational"], [15, 4, 1, "", "gestational_days"], [15, 2, 1, "", "is_gestational"], [15, 2, 1, "", "is_postnatal"], [15, 4, 1, "", "last_menstrual_period"], [15, 4, 1, "", "postnatal"], [15, 4, 1, "", "postnatal_days"], [15, 4, 1, "", "postnatal_years"], [15, 2, 1, "", "timeline"]], "gpsea.model.Cohort": [[15, 4, 1, "", "all_diseases"], [15, 4, 1, "", "all_measurements"], [15, 2, 1, "", "all_patients"], [15, 4, 1, "", "all_phenotypes"], [15, 2, 1, "", "all_transcript_ids"], [15, 4, 1, "", "all_variant_infos"], [15, 4, 1, "", "all_variants"], [15, 4, 1, "", "count_alive"], [15, 4, 1, "", "count_deceased"], [15, 4, 1, "", "count_distinct_hpo_terms"], [15, 4, 1, "", "count_females"], [15, 4, 1, "", "count_males"], [15, 4, 1, "", "count_unknown_sex"], [15, 4, 1, "", "count_unknown_vital_status"], [15, 4, 1, "", "count_with_age_of_last_encounter"], [15, 4, 1, "", "count_with_disease_onset"], [15, 4, 1, "", "from_patients"], [15, 4, 1, "", "get_excluded_count"], [15, 4, 1, "", "get_patient_ids"], [15, 4, 1, "", "get_variant_by_key"], [15, 4, 1, "", "list_all_diseases"], [15, 4, 1, "", "list_all_proteins"], [15, 4, 1, "", "list_all_variants"], [15, 4, 1, "", "list_measurements"], [15, 4, 1, "", "list_present_phenotypes"], [15, 2, 1, "", "total_patient_count"], [15, 4, 1, "", "variant_effect_count_by_tx"]], "gpsea.model.Disease": [[15, 4, 1, "", "from_raw_parts"], [15, 2, 1, "", "identifier"], [15, 2, 1, "", "is_present"], [15, 2, 1, "", "name"], [15, 2, 1, "", "onset"]], "gpsea.model.FeatureInfo": [[15, 2, 1, "", "end"], [15, 2, 1, "", "name"], [15, 4, 1, "", "overlaps_with"], [15, 2, 1, "", "region"], [15, 2, 1, "", "start"]], "gpsea.model.FeatureType": [[15, 3, 1, "", "COILED_COIL"], [15, 3, 1, "", "COMPOSITIONAL_BIAS"], [15, 3, 1, "", "DOMAIN"], [15, 3, 1, "", "MOTIF"], [15, 3, 1, "", "REGION"], [15, 3, 1, "", "REPEAT"], [15, 4, 1, "", "from_string"]], "gpsea.model.FunctionalAnnotationAware": [[15, 4, 1, "", "get_hgvs_cdna_by_tx_id"], [15, 4, 1, "", "get_preferred_tx_annotation"], [15, 4, 1, "", "get_tx_anno_by_tx_id"], [15, 2, 1, "", "tx_annotations"]], "gpsea.model.Genotype": [[15, 3, 1, "", "HEMIZYGOUS"], [15, 3, 1, "", "HETEROZYGOUS"], [15, 3, 1, "", "HOMOZYGOUS_ALTERNATE"], [15, 3, 1, "", "HOMOZYGOUS_REFERENCE"], [15, 3, 1, "", "NO_CALL"], [15, 2, 1, "", "code"]], "gpsea.model.Genotyped": [[15, 4, 1, "", "genotype_for_sample"], [15, 2, 1, "", "genotypes"]], "gpsea.model.Genotypes": [[15, 4, 1, "", "empty"], [15, 4, 1, "", "for_sample"], [15, 4, 1, "", "from_mapping"], [15, 4, 1, "", "single"]], "gpsea.model.ImpreciseSvInfo": [[15, 2, 1, "", "gene_id"], [15, 2, 1, "", "gene_symbol"], [15, 2, 1, "", "structural_type"], [15, 2, 1, "", "variant_class"], [15, 2, 1, "", "variant_key"]], "gpsea.model.Measurement": [[15, 2, 1, "", "identifier"], [15, 2, 1, "", "name"], [15, 2, 1, "", "test_result"], [15, 2, 1, "", "unit"]], "gpsea.model.Patient": [[15, 2, 1, "", "age"], [15, 4, 1, "", "disease_by_id"], [15, 2, 1, "", "diseases"], [15, 4, 1, "", "excluded_diseases"], [15, 4, 1, "", "excluded_phenotypes"], [15, 4, 1, "", "from_raw_parts"], [15, 2, 1, "", "labels"], [15, 4, 1, "", "measurement_by_id"], [15, 2, 1, "", "measurements"], [15, 2, 1, "", "patient_id"], [15, 4, 1, "", "phenotype_by_id"], [15, 2, 1, "", "phenotypes"], [15, 4, 1, "", "present_diseases"], [15, 4, 1, "", "present_phenotypes"], [15, 2, 1, "", "sex"], [15, 2, 1, "", "variants"], [15, 2, 1, "", "vital_status"]], "gpsea.model.Phenotype": [[15, 4, 1, "", "from_raw_parts"], [15, 4, 1, "", "from_term"], [15, 2, 1, "", "identifier"], [15, 2, 1, "", "is_observed"], [15, 2, 1, "", "is_present"], [15, 2, 1, "", "observed"], [15, 2, 1, "", "onset"]], "gpsea.model.ProteinFeature": [[15, 4, 1, "", "create"], [15, 2, 1, "", "feature_type"], [15, 2, 1, "", "info"], [15, 4, 1, "", "to_string"]], "gpsea.model.ProteinMetadata": [[15, 4, 1, "", "domains"], [15, 4, 1, "", "from_feature_frame"], [15, 4, 1, "", "from_uniprot_json"], [15, 4, 1, "", "get_features_variant_overlaps"], [15, 2, 1, "", "label"], [15, 4, 1, "", "motifs"], [15, 2, 1, "", "protein_features"], [15, 2, 1, "", "protein_id"], [15, 2, 1, "", "protein_length"], [15, 4, 1, "", "regions"], [15, 4, 1, "", "repeats"]], "gpsea.model.SampleLabels": [[15, 2, 1, "", "label"], [15, 4, 1, "", "label_summary"], [15, 2, 1, "", "meta_label"]], "gpsea.model.Sex": [[15, 3, 1, "", "FEMALE"], [15, 3, 1, "", "MALE"], [15, 3, 1, "", "UNKNOWN_SEX"], [15, 4, 1, "", "is_female"], [15, 4, 1, "", "is_male"], [15, 4, 1, "", "is_provided"], [15, 4, 1, "", "is_unknown"]], "gpsea.model.Status": [[15, 3, 1, "", "ALIVE"], [15, 3, 1, "", "DECEASED"], [15, 3, 1, "", "UNKNOWN"]], "gpsea.model.Timeline": [[15, 3, 1, "", "GESTATIONAL"], [15, 3, 1, "", "POSTNATAL"]], "gpsea.model.TranscriptAnnotation": [[15, 2, 1, "", "gene_id"], [15, 2, 1, "", "hgvs_cdna"], [15, 2, 1, "", "hgvsp"], [15, 2, 1, "", "is_preferred"], [15, 2, 1, "", "overlapping_exons"], [15, 2, 1, "", "protein_effect_location"], [15, 2, 1, "", "protein_id"], [15, 2, 1, "", "transcript_id"], [15, 2, 1, "", "variant_effects"]], "gpsea.model.TranscriptCoordinates": [[15, 2, 1, "", "cds_end"], [15, 2, 1, "", "cds_start"], [15, 2, 1, "", "exons"], [15, 4, 1, "", "get_cds_regions"], [15, 4, 1, "", "get_coding_base_count"], [15, 4, 1, "", "get_codon_count"], [15, 4, 1, "", "get_five_prime_utrs"], [15, 4, 1, "", "get_three_prime_utrs"], [15, 2, 1, "", "identifier"], [15, 4, 1, "", "is_coding"], [15, 2, 1, "", "is_preferred"], [15, 2, 1, "", "region"]], "gpsea.model.TranscriptInfoAware": [[15, 2, 1, "", "gene_id"], [15, 2, 1, "", "transcript_id"]], "gpsea.model.Variant": [[15, 4, 1, "", "create_variant_from_scratch"], [15, 2, 1, "", "genotypes"], [15, 2, 1, "", "tx_annotations"], [15, 2, 1, "", "variant_info"]], "gpsea.model.VariantClass": [[15, 3, 1, "", "DEL"], [15, 3, 1, "", "DUP"], [15, 3, 1, "", "INS"], [15, 3, 1, "", "INV"], [15, 3, 1, "", "MNV"], [15, 3, 1, "", "SNV"], [15, 3, 1, "", "TRANSLOCATION"]], "gpsea.model.VariantCoordinates": [[15, 2, 1, "", "alt"], [15, 2, 1, "", "change_length"], [15, 2, 1, "", "chrom"], [15, 2, 1, "", "end"], [15, 4, 1, "", "from_vcf_literal"], [15, 4, 1, "", "from_vcf_symbolic"], [15, 4, 1, "", "is_structural"], [15, 2, 1, "", "ref"], [15, 2, 1, "", "region"], [15, 2, 1, "", "start"], [15, 2, 1, "", "variant_class"], [15, 2, 1, "", "variant_key"]], "gpsea.model.VariantEffect": [[15, 3, 1, "", "CODING_SEQUENCE_VARIANT"], [15, 3, 1, "", "DOWNSTREAM_GENE_VARIANT"], [15, 3, 1, "", "FEATURE_ELONGATION"], [15, 3, 1, "", "FEATURE_TRUNCATION"], [15, 3, 1, "", "FIVE_PRIME_UTR_VARIANT"], [15, 3, 1, "", "FRAMESHIFT_VARIANT"], [15, 3, 1, "", "INCOMPLETE_TERMINAL_CODON_VARIANT"], [15, 3, 1, "", "INFRAME_DELETION"], [15, 3, 1, "", "INFRAME_INSERTION"], [15, 3, 1, "", "INTERGENIC_VARIANT"], [15, 3, 1, "", "INTRON_VARIANT"], [15, 3, 1, "", "MATURE_MIRNA_VARIANT"], [15, 3, 1, "", "MISSENSE_VARIANT"], [15, 3, 1, "", "NMD_TRANSCRIPT_VARIANT"], [15, 3, 1, "", "NON_CODING_TRANSCRIPT_EXON_VARIANT"], [15, 3, 1, "", "NON_CODING_TRANSCRIPT_VARIANT"], [15, 3, 1, "", "PROTEIN_ALTERING_VARIANT"], [15, 3, 1, "", "REGULATORY_REGION_ABLATION"], [15, 3, 1, "", "REGULATORY_REGION_AMPLIFICATION"], [15, 3, 1, "", "REGULATORY_REGION_VARIANT"], [15, 3, 1, "", "SEQUENCE_VARIANT"], [15, 3, 1, "", "SPLICE_ACCEPTOR_VARIANT"], [15, 3, 1, "", "SPLICE_DONOR_5TH_BASE_VARIANT"], [15, 3, 1, "", "SPLICE_DONOR_REGION_VARIANT"], [15, 3, 1, "", "SPLICE_DONOR_VARIANT"], [15, 3, 1, "", "SPLICE_POLYPYRIMIDINE_TRACT_VARIANT"], [15, 3, 1, "", "SPLICE_REGION_VARIANT"], [15, 3, 1, "", "START_LOST"], [15, 3, 1, "", "START_RETAINED_VARIANT"], [15, 3, 1, "", "STOP_GAINED"], [15, 3, 1, "", "STOP_LOST"], [15, 3, 1, "", "STOP_RETAINED_VARIANT"], [15, 3, 1, "", "SYNONYMOUS_VARIANT"], [15, 3, 1, "", "TFBS_ABLATION"], [15, 3, 1, "", "TFBS_AMPLIFICATION"], [15, 3, 1, "", "TF_BINDING_SITE_VARIANT"], [15, 3, 1, "", "THREE_PRIME_UTR_VARIANT"], [15, 3, 1, "", "TRANSCRIPT_ABLATION"], [15, 3, 1, "", "TRANSCRIPT_AMPLIFICATION"], [15, 3, 1, "", "UPSTREAM_GENE_VARIANT"], [15, 2, 1, "", "curie"], [15, 4, 1, "", "structural_so_id_to_display"], [15, 4, 1, "", "to_display"]], "gpsea.model.VariantInfo": [[15, 4, 1, "", "has_sv_info"], [15, 4, 1, "", "has_variant_coordinates"], [15, 4, 1, "", "is_structural"], [15, 2, 1, "", "sv_info"], [15, 2, 1, "", "variant_class"], [15, 2, 1, "", "variant_coordinates"], [15, 2, 1, "", "variant_key"]], "gpsea.model.VariantInfoAware": [[15, 2, 1, "", "variant_info"]], "gpsea.model.VitalStatus": [[15, 3, 1, "", "age_of_death"], [15, 2, 1, "", "is_alive"], [15, 2, 1, "", "is_deceased"], [15, 2, 1, "", "is_unknown"], [15, 3, 1, "", "status"]], "gpsea.model.genome": [[16, 1, 1, "", "Contig"], [16, 1, 1, "", "GenomeBuild"], [16, 1, 1, "", "GenomeBuildIdentifier"], [16, 1, 1, "", "GenomicRegion"], [16, 1, 1, "", "Region"], [16, 1, 1, "", "Strand"], [16, 1, 1, "", "Stranded"], [16, 1, 1, "", "Transposable"], [16, 5, 1, "", "transpose_coordinate"]], "gpsea.model.genome.Contig": [[16, 2, 1, "", "genbank_acc"], [16, 2, 1, "", "name"], [16, 2, 1, "", "refseq_name"], [16, 2, 1, "", "ucsc_name"]], "gpsea.model.genome.GenomeBuild": [[16, 4, 1, "", "contig_by_name"], [16, 2, 1, "", "contigs"], [16, 2, 1, "", "genome_build_id"], [16, 2, 1, "", "identifier"]], "gpsea.model.genome.GenomeBuildIdentifier": [[16, 2, 1, "", "identifier"], [16, 2, 1, "", "major_assembly"], [16, 2, 1, "", "patch"]], "gpsea.model.genome.GenomicRegion": [[16, 4, 1, "", "contains"], [16, 2, 1, "", "contig"], [16, 4, 1, "", "distance_to"], [16, 4, 1, "", "end_on_strand"], [16, 4, 1, "", "overlaps_with"], [16, 4, 1, "", "start_on_strand"], [16, 2, 1, "", "strand"], [16, 4, 1, "", "with_strand"]], "gpsea.model.genome.Region": [[16, 4, 1, "", "contains"], [16, 4, 1, "", "contains_pos"], [16, 4, 1, "", "distance_to"], [16, 2, 1, "", "end"], [16, 4, 1, "", "is_empty"], [16, 4, 1, "", "overlaps_with"], [16, 2, 1, "", "start"]], "gpsea.model.genome.Strand": [[16, 3, 1, "", "NEGATIVE"], [16, 3, 1, "", "POSITIVE"], [16, 4, 1, "", "is_negative"], [16, 4, 1, "", "is_positive"], [16, 4, 1, "", "opposite"], [16, 2, 1, "", "symbol"]], "gpsea.model.genome.Stranded": [[16, 2, 1, "", "strand"]], "gpsea.model.genome.Transposable": [[16, 4, 1, "", "to_negative_strand"], [16, 4, 1, "", "to_opposite_strand"], [16, 4, 1, "", "to_positive_strand"], [16, 4, 1, "", "with_strand"]], "gpsea.preprocessing": [[17, 1, 1, "", "CohortCreator"], [17, 1, 1, "", "DefaultImpreciseSvFunctionalAnnotator"], [17, 1, 1, "", "FunctionalAnnotator"], [17, 1, 1, "", "GeneCoordinateService"], [17, 1, 1, "", "ImpreciseSvFunctionalAnnotator"], [17, 1, 1, "", "PatientCreator"], [17, 1, 1, "", "PhenopacketOntologyTermOnsetParser"], [17, 1, 1, "", "PhenopacketPatientCreator"], [17, 1, 1, "", "PhenopacketVariantCoordinateFinder"], [17, 1, 1, "", "PreprocessingValidationResult"], [17, 1, 1, "", "ProtCachingMetadataService"], [17, 1, 1, "", "ProteinAnnotationCache"], [17, 1, 1, "", "ProteinMetadataService"], [17, 1, 1, "", "TranscriptCoordinateService"], [17, 1, 1, "", "UniprotProteinMetadataService"], [17, 1, 1, "", "VVHgvsVariantCoordinateFinder"], [17, 1, 1, "", "VVMultiCoordinateService"], [17, 1, 1, "", "VarCachingFunctionalAnnotator"], [17, 1, 1, "", "VariantAnnotationCache"], [17, 1, 1, "", "VariantCoordinateFinder"], [17, 1, 1, "", "VepFunctionalAnnotator"], [17, 5, 1, "", "configure_caching_cohort_creator"], [17, 5, 1, "", "configure_cohort_creator"], [17, 5, 1, "", "configure_default_protein_metadata_service"], [17, 5, 1, "", "configure_protein_metadata_service"], [17, 5, 1, "", "load_phenopacket_files"], [17, 5, 1, "", "load_phenopacket_folder"], [17, 5, 1, "", "load_phenopackets"]], "gpsea.preprocessing.CohortCreator": [[17, 4, 1, "", "process"]], "gpsea.preprocessing.DefaultImpreciseSvFunctionalAnnotator": [[17, 4, 1, "", "annotate"]], "gpsea.preprocessing.FunctionalAnnotator": [[17, 4, 1, "", "annotate"]], "gpsea.preprocessing.GeneCoordinateService": [[17, 4, 1, "", "fetch_for_gene"]], "gpsea.preprocessing.ImpreciseSvFunctionalAnnotator": [[17, 4, 1, "", "annotate"]], "gpsea.preprocessing.PatientCreator": [[17, 4, 1, "", "process"]], "gpsea.preprocessing.PhenopacketOntologyTermOnsetParser": [[17, 4, 1, "", "default_parser"], [17, 4, 1, "", "process"]], "gpsea.preprocessing.PhenopacketPatientCreator": [[17, 4, 1, "", "process"]], "gpsea.preprocessing.PhenopacketVariantCoordinateFinder": [[17, 4, 1, "", "find_coordinates"]], "gpsea.preprocessing.PreprocessingValidationResult": [[17, 4, 1, "", "is_ok"], [17, 2, 1, "", "policy"], [17, 4, 1, "", "summarize"]], "gpsea.preprocessing.ProtCachingMetadataService": [[17, 4, 1, "", "annotate"]], "gpsea.preprocessing.ProteinAnnotationCache": [[17, 4, 1, "", "get_annotations"], [17, 4, 1, "", "store_annotations"]], "gpsea.preprocessing.ProteinMetadataService": [[17, 4, 1, "", "annotate"]], "gpsea.preprocessing.TranscriptCoordinateService": [[17, 4, 1, "", "fetch"]], "gpsea.preprocessing.UniprotProteinMetadataService": [[17, 4, 1, "", "annotate"], [17, 4, 1, "", "parse_uniprot_json"]], "gpsea.preprocessing.VVHgvsVariantCoordinateFinder": [[17, 4, 1, "", "find_coordinates"]], "gpsea.preprocessing.VVMultiCoordinateService": [[17, 4, 1, "", "fetch"], [17, 4, 1, "", "fetch_for_gene"], [17, 4, 1, "", "get_response"], [17, 4, 1, "", "parse_multiple"], [17, 4, 1, "", "parse_response"]], "gpsea.preprocessing.VarCachingFunctionalAnnotator": [[17, 4, 1, "", "annotate"], [17, 4, 1, "", "with_cache_folder"]], "gpsea.preprocessing.VariantAnnotationCache": [[17, 4, 1, "", "get_annotations"], [17, 4, 1, "", "store_annotations"]], "gpsea.preprocessing.VariantCoordinateFinder": [[17, 4, 1, "", "find_coordinates"]], "gpsea.preprocessing.VepFunctionalAnnotator": [[17, 3, 1, "", "NONCODING_EFFECTS"], [17, 4, 1, "", "annotate"], [17, 4, 1, "", "fetch_response"], [17, 4, 1, "", "format_coordinates_for_vep_query"], [17, 4, 1, "", "process_response"]], "gpsea.util": [[18, 5, 1, "", "open_text_io_handle_for_reading"], [18, 5, 1, "", "open_text_io_handle_for_writing"]], "gpsea.view": [[19, 1, 1, "", "CohortVariantViewer"], [19, 1, 1, "", "CohortViewer"], [19, 1, 1, "", "DiseaseViewer"], [19, 1, 1, "", "Formatter"], [19, 1, 1, "", "GpseaReport"], [19, 1, 1, "", "MtcStatsViewer"], [19, 1, 1, "", "ProteinVariantViewer"], [19, 1, 1, "", "ProteinVisualizable"], [19, 1, 1, "", "ProteinVisualizer"], [19, 1, 1, "", "VariantFormatter"], [19, 1, 1, "", "VariantTranscriptVisualizer"], [19, 5, 1, "", "summarize_hpo_analysis"]], "gpsea.view.CohortVariantViewer": [[19, 4, 1, "", "process"]], "gpsea.view.CohortViewer": [[19, 4, 1, "", "process"]], "gpsea.view.DiseaseViewer": [[19, 4, 1, "", "process"]], "gpsea.view.Formatter": [[19, 4, 1, "", "format_as_string"]], "gpsea.view.GpseaReport": [[19, 4, 1, "", "write"]], "gpsea.view.MtcStatsViewer": [[19, 4, 1, "", "process"]], "gpsea.view.ProteinVariantViewer": [[19, 4, 1, "", "process"]], "gpsea.view.ProteinVisualizable": [[19, 2, 1, "", "marker_counts"], [19, 2, 1, "", "protein_feature_ends"], [19, 2, 1, "", "protein_feature_names"], [19, 2, 1, "", "protein_feature_starts"], [19, 2, 1, "", "protein_feature_types"], [19, 2, 1, "", "protein_id"], [19, 2, 1, "", "protein_length"], [19, 2, 1, "", "protein_metadata"], [19, 2, 1, "", "transcript_coordinates"], [19, 2, 1, "", "transcript_id"], [19, 2, 1, "", "variant_effects"], [19, 2, 1, "", "variant_locations"], [19, 2, 1, "", "variant_locations_counted_absolute"]], "gpsea.view.ProteinVisualizer": [[19, 4, 1, "", "draw_fig"], [19, 4, 1, "", "draw_protein_diagram"]], "gpsea.view.VariantFormatter": [[19, 4, 1, "", "format_as_string"]], "gpsea.view.VariantTranscriptVisualizer": [[19, 4, 1, "", "draw_variants"]]}, "objnames": {"0": ["py", "module", "Python module"], "1": ["py", "class", "Python class"], "2": ["py", "property", "Python property"], "3": ["py", "attribute", "Python attribute"], "4": ["py", "method", "Python method"], "5": ["py", "function", "Python function"], "6": ["py", "data", "Python data"]}, "objtypes": {"0": "py:module", "1": "py:class", "2": "py:property", "3": "py:attribute", "4": "py:method", "5": "py:function", "6": "py:data"}, "terms": {"": [4, 6, 7, 9, 10, 11, 12, 14, 15, 16, 17, 22, 23, 26, 27, 28, 30, 32, 34, 35, 36, 44, 45], "0": [1, 2, 3, 6, 8, 10, 15, 16, 17, 19, 23, 25, 26, 27, 28, 30, 32, 34, 35, 36, 37, 40, 44, 45], "000": 6, "0000002": 31, "0000047": 37, "0000078": 31, "0000079": 31, "0000080": 31, "0000098": 37, "0000118": [2, 31, 35], "0000119": 31, "0000152": 31, "0000223": 31, "0000234": 31, "0000252": 37, "0000256": 37, "0000271": 31, "0000316": 37, "0000356": 31, "0000359": 31, "0000370": 31, "0000377": 37, "0000407": 27, "0000464": 31, "0000478": 31, "0000486": 26, "0000496": 31, "0000504": 31, "0000517": 40, "0000539": 31, "0000553": 31, "0000562": 23, "0000591": 31, "0000598": 31, "0000707": [31, 35], "0000759": 31, "0000769": 31, "0000777": 31, "0000818": 31, "0000820": 31, "0000828": 31, "0000834": 31, "0000847": 31, "0000864": 31, "0000924": 31, "0000927": 31, "0000929": 31, "0000951": 31, "0000971": 31, "0001060": 15, "0001115": 35, "0001155": 31, "0001166": [1, 3, 7], "0001167": [23, 26], "0001172": 26, "0001191": [23, 30], "0001194": 31, "0001197": 31, "0001199": [23, 26, 30], "0001249": 37, "0001250": [7, 8, 15], "0001256": 37, "0001263": 37, "0001311": 31, "0001392": 31, "0001437": 31, "0001438": 31, "0001446": 31, "0001454": 31, "0001507": 31, "0001511": 37, "0001518": 37, "0001537": 6, "0001551": 31, "0001560": 31, "0001566": 15, "0001567": 15, "0001574": [15, 31], "0001575": 15, "0001578": 15, "0001580": 15, "0001583": 15, "0001587": 15, "0001589": 15, "0001595": 31, "0001597": 31, "0001608": 31, "0001619": 15, "0001620": 15, "0001621": 15, "0001623": 15, "0001624": 15, "0001626": [15, 31], "0001627": [15, 27, 31, 37], "0001628": 15, "0001629": [23, 26, 30], "0001630": 15, "0001631": [15, 23, 26, 30], "0001632": 15, "0001671": [23, 26], "0001684": [23, 26, 30], "0001732": 31, "0001743": 31, "0001760": 31, "0001782": 15, "0001787": [15, 31], "0001792": 15, "0001818": 15, "0001819": 15, "0001821": 15, "0001822": 15, "0001871": 31, "0001872": 31, "0001877": 31, "0001881": 31, "0001889": 15, "0001891": 15, "0001892": [15, 31], "0001893": 15, "0001894": 15, "0001895": 15, "0001906": 15, "0001907": 15, "0001928": 31, "0001939": 31, "0001965": 31, "0001977": 31, "0002012": [15, 31], "0002019": 15, "0002086": 31, "0002169": 15, "0002170": 15, "0002187": 37, "0002270": 31, "0002339": 35, "0002342": 37, "00024192670136836828": 26, "000242": 26, "0002585": 31, "0002597": 31, "0002664": 31, "0002715": 31, "0002733": 31, "0002793": 31, "0002795": 31, "0002813": 31, "0002814": 31, "0002817": 31, "0002916": 31, "0002926": 31, "0002973": 31, "0002981": 31, "0002984": [23, 26, 30], "0003011": 31, "0003110": 31, "0003111": 31, "0003117": 31, "0003220": 31, "0003254": 31, "0003256": 31, "0003498": 37, "0003549": 31, "0003621": 17, "0003774": 28, "0003839": 31, "0003974": [23, 26, 30], "0004298": 31, "0004312": 31, "0004322": 37, "0004323": 31, "0004328": 31, "0004329": 31, "0004332": 31, "0004337": 31, "0004352": 31, "0004353": 31, "0004356": 31, "0004360": 31, "0004361": 31, "0004370": 31, "0004371": 31, "0004378": 31, "0004404": 31, "0004408": 31, "0004930": 31, "0005120": [23, 26], "0005368": 31, "0005561": 31, "0005922": [23, 26, 37], "0005927": 26, "0006265": 26, "0006476": 31, "0006490": 31, "0006496": [23, 26], "0006500": 31, "0006529": 31, "0006707": 31, "0006889": 37, "0007686": 31, "0008047": 31, "000899": 23, "0008990549794102921": 23, "0009115": [23, 26], "0009124": 31, "0009127": 31, "0009777": [23, 26, 30], "0009778": [23, 26, 30], "0009809": 31, "0009810": 31, "0009815": [23, 26], "0010696": 35, "0010864": 37, "0010876": 31, "0010881": 31, "0010932": 31, "0010935": 31, "0010936": 31, "0010938": 37, "0010948": 31, "0010968": 31, "0010969": 31, "0010974": 31, "0010977": 31, "0010978": 31, "0010987": 31, "0010991": 31, "0011014": 31, "0011017": 31, "0011018": 31, "0011019": 31, "0011024": 31, "0011025": 31, "0011028": 31, "0011032": 31, "0011043": 31, "0011111": 31, "0011121": 31, "0011122": 31, "0011138": 31, "0011277": 31, "0011297": [23, 26], "0011314": 26, "0011342": 37, "0011343": 37, "0011344": 37, "0011409": 31, "0011442": 31, "0011446": 31, "0011620": 31, "0011623": 26, "0011730": 31, "0011732": 31, "0011733": 31, "0011766": 31, "0011767": 31, "0011772": 31, "0011804": 31, "0011805": 31, "0011842": 31, "0011843": 31, "0011844": [23, 26], "0011869": 31, "0011875": 31, "0011884": 31, "0011893": 31, "0011902": 31, "0011994": [23, 26], "0012029": 31, "0012093": 31, "0012099": 31, "0012103": 31, "0012111": 31, "0012129": 31, "0012130": 31, "0012131": 31, "0012135": 31, "0012143": 31, "0012145": 31, "0012210": 27, "0012243": 31, "0012252": 31, "0012261": 31, "0012285": 31, "0012337": 31, "0012338": 31, "0012345": 31, "0012372": [27, 31], "0012373": 31, "0012379": 31, "0012415": 31, "0012443": [8, 27], "0012447": 31, "0012503": 31, "0012535": 31, "0012591": 31, "0012614": 31, "0012632": 31, "0012638": 31, "0012639": 31, "0012640": 31, "0012647": 31, "0012654": 31, "0012680": 31, "0012681": 31, "0012688": 31, "0012700": 31, "0012718": 31, "0012757": 31, "0012769": 31, "0012772": 31, "0020047": 31, "0020054": 31, "0020058": 31, "0020061": 31, "0020155": 31, "0020169": 31, "0025015": 31, "0025021": 31, "0025031": 31, "0025032": 31, "0025033": 31, "0025065": 31, "0025142": 31, "0025155": 31, "0025276": 31, "0025354": 31, "0025427": 31, "0025429": 31, "0025443": 31, "0025454": 31, "0025456": 31, "0025461": 31, "0025463": 31, "0025546": 31, "0025590": 31, "0025640": 31, "0025668": 31, "0025669": 31, "0025688": 31, "0030085": 31, "0030163": 31, "0030272": 31, "0030338": 31, "0030352": 31, "0030453": 31, "0030680": 31, "0030684": 31, "0030687": 31, "0030800": 31, "0030829": 31, "0030860": 31, "0030872": 31, "0030875": 31, "0030878": 31, "0030956": 31, "0030972": 31, "0031071": 31, "0031072": 31, "0031073": 31, "0031093": 31, "0031094": 31, "0031097": 31, "0031099": 31, "0031101": 31, "0031285": 31, "0031331": 31, "0031340": 31, "0031377": 31, "0031383": 31, "0031389": 31, "0031409": 31, "0031411": 31, "0031416": 31, "0031427": 31, "0031476": 31, "0031508": 31, "0031546": [23, 30], "0031550": 31, "0031602": 31, "0031653": 31, "0031657": 31, "0031685": 31, "0031703": 31, "0031704": 31, "0031818": 31, "0031850": 31, "0031871": 31, "0031884": 31, "0031910": 31, "0031982": 35, "0032120": 31, "0032180": 31, "0032226": 31, "0032243": 31, "0032245": 31, "0032251": 31, "0032314": 31, "0032367": 31, "0032481": 31, "0032485": 31, "0032488": 31, "0032943": 31, "0033012": 31, "0033013": 31, "0033072": 31, "0033127": 31, "0033170": 31, "0033334": 31, "0033335": 31, "0033354": 31, "0033358": 31, "0033796": 31, "0033799": 31, "0034190": 31, "0034200": 31, "0034251": 31, "0034263": 31, "0034370": 31, "0034430": 31, "0034442": 31, "0034482": 31, "0034552": 31, "0034644": 31, "0034684": 31, "0034698": 31, "0034737": 31, "0034858": 31, "0034899": 31, "0034915": 31, "0034916": 31, "0034977": 31, "0037136715160199273": 26, "0040064": 31, "0040068": 31, "0040069": 31, "0040070": 31, "0040084": 31, "0040085": 31, "0040127": 31, "0040172": 31, "0040203": 31, "0040207": 31, "0040214": 31, "0040224": 31, "0040231": 31, "0045026": 31, "0045027": 31, "0045060": [23, 26], "0045081": 31, "005628510156750059": 23, "005806": 26, "005806240832840839": 26, "01": [23, 26, 27, 28, 30, 34, 35, 37, 40], "0100016": 31, "0100022": 31, "0100491": 31, "0100508": 31, "0100530": 31, "0100536": 31, "0100685": 31, "0100705": 31, "0100763": 31, "0100765": 31, "0100766": 31, "0100767": 31, "0100886": 31, "0100887": 31, "012074957610483744": 27, "02560162393963452": 23, "0410008": 31, "0410009": 31, "0410014": 31, "0430071": 31, "04456405819223913": 26, "04502808125400047": 23, "05": [1, 3, 23, 26, 35], "0500012": 31, "0500015": 31, "0500016": 31, "0500017": 31, "0500018": 31, "0500019": 31, "0500020": 31, "0500114": 31, "0500117": 31, "0500166": 31, "0500183": 31, "0500238": 31, "06": [26, 27], "06200425830044376": 28, "06544319142266644": 26, "06932119159387057": 26, "07": [23, 26, 27, 28, 30, 34, 35, 37, 40], "08470708701170182": 26, "0f": 28, "1": [1, 2, 3, 6, 10, 15, 16, 17, 23, 25, 26, 27, 28, 30, 31, 32, 34, 35, 36, 37, 40, 44, 45], "10": [2, 6, 8, 15, 17, 19, 23, 25, 26, 27, 28, 30, 35, 37], "100": [2, 23, 26, 35], "1000": 15, "1000029": [6, 15, 45], "1001": [15, 32], "1003": 32, "100del": 23, "100dup": [23, 30], "101": 15, "1024del": 23, "106_107insc": [23, 30], "11": [15, 16, 23, 25, 30, 35], "113": 30, "117": [23, 30], "12": [23, 25, 34], "120": [15, 27, 28, 34], "1221c": [23, 34], "123": [8, 10], "129600": 38, "12_114355723_114355723_g_a": 23, "12_114355755_114355756_tg_t": 23, "12_114355784_114355785_ca_c": 23, "12_114356064_114356065_ta_t": 23, "12_114366207_114366208_gc_g": 23, "12_114366241_114366242_ct_c": 23, "12_114366267_114366267_c_a": 23, "12_114366274_114366274_g_t": 23, "12_114366312_114366312_g_a": 23, "12_114366348_114366349_ct_c": 23, "12_114366360_114366360_c_t": 23, "12_114366366_114366366_t_a": 23, "12_114385474_114385474_a_g": 23, "12_114385475_114385475_c_t": 23, "12_114385521_114385521_c_g": 23, "12_114385521_114385521_c_t": [23, 30], "12_114385522_114385522_g_a": [23, 30], "12_114385550_114385550_a_aattattctcag": 23, "12_114385553_114385553_c_a": 23, "12_114385563_114385563_g_a": [23, 30], "12_114394743_114394746_tgtg_t": 23, "12_114394762_114394763_ca_c": 23, "12_114394817_114394817_g_c": 23, "12_114394820_114394820_c_g": 23, "12_114398568_114398568_c_a": 23, "12_114398578_114398579_ca_c": 23, "12_114398602_114398602_t_g": 23, "12_114398626_114398627_cg_c": 23, "12_114398632_114398632_g_a": 23, "12_114398656_114398656_c_cg": [23, 30], "12_114398666_114398667_tg_t": 23, "12_114398675_114398675_g_t": [23, 30], "12_114398682_114398682_c_cg": [23, 30], "12_114398708_114398709_gc_g": 23, "12_114399514_114399514_a_c": [23, 30], "12_114399559_114399559_t_c": 23, "12_114399594_114399594_a_c": 23, "12_114399613_114399613_t_a": 23, "12_114399622_114399622_g_t": 23, "12_114399625_114399629_acatc_a": 23, "12_114399633_114399633_c_g": 23, "12_114401827_114401827_t_a": 23, "12_114401830_114401830_c_t": [23, 30], "12_114401846_114401846_c_g": 23, "12_114401853_114401853_g_t": 23, "12_114401873_114401874_ta_t": 23, "12_114401907_114401907_a_g": 23, "12_114401921_114401921_c_g": 23, "12_114403754_114403754_g_t": 23, "12_114403792_114403792_c_cg": [23, 30], "12_114403798_114403798_g_gc": [23, 30], "12_114403798_114403799_gc_g": 23, "12_114403859_114403859_g_t": 23, "13": [1, 2, 3, 23, 25, 26, 30], "1304del": 23, "1333del": 23, "13654199434471745": 23, "1366c": 23, "14": [23, 25, 26, 30], "142900": [23, 30], "1435th": 45, "145c": 23, "148": 23, "15": [16, 23, 30], "154700": 38, "1554": 34, "156": [23, 26, 30, 34, 40], "16": 23, "161t": 23, "16436": 28, "16th": 17, "17": [23, 26], "18": [23, 26, 34, 40], "1824c": 15, "18262": 28, "18869165": 34, "18869682": 34, "18921399": 34, "19": [23, 26, 27, 30, 34, 45], "194del": 23, "19723": 28, "1_8358231_8358231_t_c": 45, "1d": 19, "1g": 23, "1st": [6, 15, 34], "2": [2, 3, 4, 6, 9, 10, 12, 15, 16, 17, 23, 25, 26, 27, 28, 30, 31, 32, 34, 35, 36, 37, 44, 45], "20": [2, 6, 15, 23, 25, 26, 27, 28, 30, 35, 45], "2011": 37, "2015": 21, "2018": [27, 34], "2019": 25, "2022": [29, 37], "2024": 27, "205": 15, "206": 15, "207": 28, "21": 26, "211": 23, "215c": 23, "22": [2, 23, 26, 30], "22280": 28, "222g": 23, "223": 15, "224": 15, "22_10001_20000_inv": [6, 15], "23": [23, 26, 31], "238g": [23, 30], "24": 26, "241a": 23, "243": 23, "246_249del": 23, "25": [15, 26, 28], "250": [30, 34], "253a": 17, "253c": 23, "256000": [7, 8], "262a": 23, "263": 34, "27": [23, 26, 30], "27bp": 15, "28": [23, 26], "281t": 23, "287": 26, "2986": [8, 15, 25], "299": 34, "29th": 17, "2d": 2, "2nd": 6, "2t": 23, "2x2": 4, "2x3": 4, "3": [2, 4, 15, 17, 23, 27, 28, 31, 32, 35, 36], "30": [15, 17, 23, 26, 30], "3000013": 31, "3000036": 31, "3000050": 31, "303": 25, "30552424": 23, "31": [23, 26], "316a": 23, "32": [23, 26, 30], "320": 34, "321681": 15, "321682": 15, "321887": 15, "33": [23, 26], "34": [23, 26], "345": 26, "346": 34, "348081479150901e": 27, "348081479150902e": 27, "353": 23, "356": [30, 34], "36": [23, 26, 30, 35], "3603": [15, 17], "361t": [23, 30], "36303223": 29, "365": 15, "3652": 15, "369": [23, 26, 40], "374del": 23, "38": [23, 30], "38336121": 23, "4": [2, 6, 8, 10, 15, 17, 23, 26, 27, 28, 30, 34, 35], "40": [2, 23, 30, 35], "4000056": 31, "4000183": 31, "400dup": [23, 30], "4065940176561687": 26, "408c": [23, 30], "40c": 23, "41": [23, 26, 30], "416del": 23, "42": [19, 23, 26], "426dup": [23, 30], "43": [23, 26], "4304a": 45, "432292015291845e": 26, "4375": 15, "44": [23, 26], "45": [23, 26], "450": 35, "451c": 23, "456": 10, "456del": 23, "46": [23, 30, 34], "48": [23, 26], "481a": 23, "4870099714553749": 26, "5": [1, 3, 6, 15, 17, 23, 26, 27, 28, 30, 34, 37, 44, 45], "50": [6, 15, 23, 26, 30, 45], "504del": 23, "50bp": 6, "51": [23, 30], "510": 23, "518": [30, 34], "52": 23, "53": [23, 26, 30], "54": [23, 30], "55": [23, 26], "56": [23, 30], "578": 15, "58": 26, "584g": 23, "587c": 23, "59": 26, "5g": 23, "5th": [6, 15, 23], "5x": 27, "6": [15, 23, 26, 27, 28, 29, 30, 32, 35, 45], "60": 23, "6000062": 31, "6000231": 31, "6000489": 31, "6000673": 31, "614": 25, "6190936213143254e": 23, "62": 23, "63": 26, "630": 25, "64": [23, 26, 35], "641del": 23, "65": 26, "658_660del": 23, "664": 25, "668c": [23, 30], "67": 26, "678g": 23, "680_681insctgagaataat": 23, "69": [25, 26], "7": [1, 3, 6, 10, 15, 23, 30, 35], "709c": [23, 30], "71": [23, 26], "710g": [23, 30], "72": 23, "741216622359659": 25, "75": 26, "755": 23, "7703831604944444": 26, "7735491022101784": 23, "78": 26, "781a": 23, "787g": 23, "798del": 23, "8": [8, 15, 17, 18, 23, 25, 26, 30, 34, 35], "80": [26, 34], "833333333333336": 26, "835c": 23, "84": 26, "85": [23, 30], "873c": 23, "880g": 23, "89": 26, "9": [25, 26, 34], "90": 35, "905del": 23, "93": 26, "939del": 23, "94": 23, "95": [23, 35], "97": 26, "9876g": 15, "99": [26, 35], "A": [2, 3, 6, 7, 8, 10, 12, 15, 17, 19, 21, 23, 30, 32, 34, 35, 37, 39, 41, 44], "AND": [6, 27, 45], "AT": 32, "As": [5, 7, 27, 30, 41, 45], "But": 30, "By": [2, 19, 23, 35, 40], "For": [2, 4, 7, 8, 14, 15, 16, 23, 25, 26, 27, 28, 29, 30, 32, 34, 35, 36, 40, 44, 45], "INS": 15, "If": [2, 3, 6, 11, 13, 15, 17, 18, 23, 35, 37], "In": [2, 4, 8, 15, 17, 21, 23, 26, 27, 28, 29, 30, 33, 34, 35, 37, 40, 41, 44], "It": [3, 4, 23, 30, 35, 43], "NO": 7, "NOT": [2, 15, 16, 25, 45], "No": [1, 3, 16, 23, 30, 34, 40], "Not": 15, "OR": [6, 25, 27, 44, 45], "On": [3, 7, 34], "One": [28, 37, 45], "That": 22, "The": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 19, 21, 22, 25, 26, 27, 28, 30, 31, 32, 33, 34, 35, 36, 38, 39, 40, 41, 43, 44, 45], "Then": [15, 22, 23, 34], "There": [15, 23, 24], "These": [6, 15], "To": [17, 22, 23, 26, 27, 34, 35, 45], "_": [27, 28, 34, 40], "__eq__": 6, "__hash__": 6, "__init__": [15, 17, 35], "__repr__": 6, "__str__": 6, "_api": 2, "_cohort": 15, "_io": 17, "_measur": 25, "_missing_implies_phenotype_exclud": 7, "_t": 15, "_tempor": 15, "_term_id": 2, "_variant": 44, "a_label": [6, 23, 25, 26, 27, 28, 44], "a_pred": [6, 23, 25, 26, 27, 28, 44], "aa": 6, "aat": 32, "ab": 6, "abbrevi": [19, 35], "abdomen": 31, "abdomin": 31, "abil": 30, "abnorm": [8, 21, 23, 26, 27, 30, 31, 32, 40], "about": [2, 6, 11, 15, 17, 19, 22, 23, 30, 33, 34, 35, 37, 39, 40], "abov": [6, 22, 31, 34, 37, 38], "absenc": [1, 3, 7, 23, 30, 40], "absens": 30, "absent": [23, 26, 30], "absolut": 6, "abstract": [2, 4, 5, 6, 7, 8, 9, 10, 12, 15, 16, 17, 19], "ac": [36, 44], "ac_": 44, "accept": [15, 17], "acceptor": 23, "access": [6, 15, 16, 17, 22, 23, 27, 34, 35, 40], "accommod": 31, "accord": [2, 3, 23, 26, 30, 31], "account": 35, "acetylaspart": 31, "acid": [15, 30, 31, 34], "across": [2, 19, 33, 43], "actg": 32, "activ": [30, 31], "actual": [30, 34], "ad": 37, "adapt": [8, 31], "add": [22, 39], "addit": [4, 22, 23], "addition": 23, "address": 3, "adenosin": 31, "adiponectin": 31, "adipos": 31, "adjac": 16, "adjust": 37, "adnexa": 31, "adren": 31, "adrenocorticotropin": 31, "advanc": 2, "advantag": [23, 26, 35, 40], "affect": [6, 15, 23, 29, 32, 34, 36, 45], "affected_exon": 15, "affects_egfr": 36, "affects_lmna": 36, "after": [1, 3, 17, 22], "ag": [0, 10, 11, 15, 17, 23, 28, 30, 37], "against": 29, "age_of_death": 15, "aii": 28, "aiii": 28, "al": [8, 21, 25, 27, 29, 34, 37], "ala143argfster40": [23, 30], "ala34glyfster27": [23, 30], "ala34profster32": [23, 30], "albumin": 31, "aldosteron": 31, "alel": 44, "align": 15, "aliv": [11, 15, 23, 30], "all": [1, 2, 3, 5, 6, 7, 8, 15, 17, 22, 26, 28, 31, 32, 33, 34, 39, 41, 42, 44, 45], "all_count": [1, 3], "all_diseas": 15, "all_measur": 15, "all_pati": 15, "all_phenotyp": 15, "all_transcript_id": 15, "all_vari": 15, "all_variant_info": 15, "allel": [6, 7, 8, 15, 21, 26, 27, 28, 29, 33, 39, 44, 45], "allele_count": [5, 6, 36], "allelecount": [5, 6], "allianc": 21, "allow": [3, 30, 33, 34, 35, 41, 44], "allow_nan": 14, "alon": 35, "along": [14, 34, 36, 39], "alpha": [1, 3, 26, 31, 35], "alreadi": 34, "also": [15, 31, 34, 39, 40], "alt": [15, 32], "altern": [6, 12, 15, 27, 30, 32, 35, 36], "although": 30, "alwai": [6, 15, 16, 34], "amaz": 34, "amino": [15, 30, 31], "aminoacid": [6, 15, 16, 19, 34], "amniot": 31, "among": [2, 15], "amount": [8, 34], "amyloid": 31, "an": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 15, 16, 17, 18, 19, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 33, 34, 35, 38, 39, 40, 41, 44, 45], "analys": [1, 33, 34, 41, 44], "analysi": [0, 15, 17, 19, 21, 24, 29, 33, 34, 36, 37, 38, 40, 41, 43, 44, 45], "analysisresult": [0, 1, 3], "analyz": [0, 8, 10, 19, 23, 25, 27, 28, 30, 41], "anatomi": [23, 34], "ancestor": [7, 23, 32, 40], "andolfo": 34, "aneurysm": 32, "angiotensin": 31, "ani": [2, 5, 6, 8, 14, 15, 17, 26, 27, 30, 34, 35, 36, 37, 38, 45], "ank": [6, 15], "ankyrin": 15, "annot": [2, 6, 7, 11, 15, 17, 19, 23, 26, 30, 32, 34, 35, 40, 45], "annotation_frequency_threshold": [2, 35], "anomali": [27, 37], "anoth": [7, 16, 23, 34], "answer": 6, "anterior": [31, 40], "antimullerian": 31, "anu": 31, "api": [15, 17, 21, 26, 30, 41, 45], "aplasia": [23, 26], "apoptosi": 31, "appear": 31, "appendicular": [23, 26], "appli": [1, 3, 9, 32, 35], "applic": 23, "apply_predicates_on_pati": [1, 3], "approach": [33, 35], "appropri": [23, 24, 30], "ar": [1, 2, 3, 6, 8, 9, 10, 15, 16, 17, 19, 21, 22, 23, 24, 25, 26, 27, 29, 30, 31, 34, 37, 40, 41, 44, 45], "arachnodactyli": 7, "arbitrari": [14, 16], "areolar": 31, "arg": 14, "arg134profster49": [23, 30], "arg237gln": [23, 30], "arg237pro": 23, "arg237trp": [23, 30], "arg279ter": [23, 30], "arg81trp": 23, "arginin": 45, "argument": [8, 13, 19, 35, 36, 40], "arithmet": 16, "arm": 31, "aromatas": 31, "around": [4, 9, 12, 15], "arrai": [4, 19], "arrang": 31, "arrhythmia": 23, "arriv": 35, "ask": [2, 21], "aspect": [19, 30], "assembl": 17, "assembli": 16, "assert": [15, 16], "assess": [1, 3, 15, 23, 27, 37], "assign": [1, 3, 5, 6, 7, 8, 10, 15, 26, 27, 37, 38, 39, 41, 44, 45], "assist": 33, "associ": [1, 3, 8, 15, 17, 21, 23, 25, 29, 30, 34, 41], "assum": [15, 16, 17, 25, 35], "assumpt": [35, 40], "atrial": [23, 26, 30, 31], "atrium": [23, 26], "atrophi": 27, "atrophin": 27, "attach": 15, "attain": [1, 3, 28], "attribut": [3, 6, 7, 15, 21], "automat": 27, "autonom": 31, "autosom": [23, 44], "avail": [1, 2, 10, 15, 17, 21, 23, 27, 30, 34, 41, 45], "avoid": [19, 31], "ax": [8, 10, 19, 23, 27, 28, 30, 34], "axi": [27, 28, 31, 36, 39], "b": [6, 15, 16, 35, 44], "b_label": [6, 23, 25, 26, 27, 28, 44], "b_predic": [6, 23, 25, 27, 28, 44], "back": [13, 17, 34], "background": [21, 33], "backup": 15, "bandwidth": 34, "base": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 14, 15, 16, 17, 18, 19, 23, 26, 27, 31, 32, 34, 36, 37, 38, 41, 43], "baseview": 19, "basi": 30, "basic": [15, 16, 34, 45], "batteri": 7, "bb": 6, "becaus": [2, 15, 29, 30, 31, 32, 35, 37], "been": [10, 15, 23, 26, 34, 35], "befor": [15, 35, 45], "behavior": 21, "behind": [23, 40], "being": [1, 2, 3, 12, 16, 17, 19, 23, 30, 35, 37, 41, 45], "belong": [2, 15], "below": [6, 32], "benjamini": [1, 3, 23, 26, 35], "besid": 34, "best": 21, "beta": [31, 34], "better": 45, "between": [3, 8, 10, 11, 15, 16, 19, 21, 23, 25, 26, 27, 28, 30, 32, 35, 37, 43], "beyond": 6, "bia": [15, 34], "biallel": 6, "biallelic_pred": [5, 6, 25, 44], "big": 25, "bin": [1, 3, 5, 6, 23, 27, 35], "bind": 15, "biolog": [15, 16, 27, 34], "biologi": 21, "biomark": 31, "biomed": [23, 34], "biopterin": 31, "birth": [15, 31], "bit": 40, "bleed": 31, "blood": 31, "bodi": 31, "boiler": 34, "boilerpl": 34, "bone": [23, 26, 31], "bonferroni": [23, 35], "bool": [2, 6, 7, 10, 15, 16, 17, 19], "boolean": 15, "borderlin": 37, "both": [1, 4, 15, 17, 23, 37, 38, 41, 44], "bound": [16, 17], "boundari": [15, 16], "box": [8, 27, 30, 34], "bp": [6, 15, 32, 45], "brain": [8, 27], "branch": [22, 35], "break": 15, "breakend": 15, "breakpoint": [6, 15, 17], "breast": 31, "breath": 31, "brief": 21, "bring": [23, 31], "bronchu": 31, "buccal": 31, "bug": 21, "build": [6, 15, 16, 17, 23, 26], "built": 34, "burden": [2, 3, 23, 35], "c": [5, 15, 17, 21, 23, 25, 27, 30, 32, 34, 45], "c17998": 15, "c46112": 15, "c46113": 15, "cach": [13, 17, 34], "cache_dir": 17, "cache_env": [0, 13], "calcium": 31, "calcul": [4, 8, 9, 12, 15, 16, 26, 30], "calf": 31, "call": [14, 15, 31, 34, 35], "callabl": 8, "can": [2, 3, 4, 5, 6, 7, 8, 15, 16, 17, 19, 22, 23, 26, 27, 28, 30, 31, 34, 35, 36, 37, 38, 39, 40, 44, 45], "cannot": [5, 8, 10, 11, 15, 17, 27, 34, 37, 41], "canon": 15, "cap": 35, "capabl": 41, "carboxyl": 31, "cardiac": [23, 26, 30, 31], "cardiomyocyt": 31, "cardiovascular": 31, "carpal": [23, 30], "carri": [27, 29, 34], "cart": 31, "cascad": 31, "case": [2, 8, 15, 17, 23, 26, 27, 30, 34, 40], "cat_id": [1, 5, 8, 10, 25, 27], "catalyt": 30, "cataract": 35, "catecholamin": 31, "categor": [2, 5, 6, 7, 30, 39, 44], "categori": [1, 3, 5, 7, 8, 10, 15, 23, 25, 26, 27, 30, 33, 34, 36, 37, 39], "catheter": 31, "caudat": 35, "caus": [21, 40], "caviti": 31, "ccc": 32, "cct": 15, "cd": [15, 22], "cdna": [15, 23], "cds_end": 15, "cds_start": 15, "cell": [30, 31], "cellular": 31, "censor": [10, 11], "central": 31, "cerebellar": 27, "certain": [6, 15, 30, 35, 39, 45], "certainli": 34, "cg": 32, "chanc": [23, 26, 35], "chang": [6, 15, 27, 33, 34, 45], "change_length": [6, 15, 27, 45], "charact": 15, "character": [15, 23], "characterist": 15, "check": [1, 3, 4, 6, 15, 16, 17, 23, 35, 45], "check_circular": 14, "checker": 34, "checkout": 22, "child": 2, "children": [31, 35], "choic": [15, 33], "choos": [6, 17, 23, 30, 33], "chosen": [15, 23, 26, 34, 35], "chr1": [15, 16, 32], "chr5": 15, "chrom": [15, 32], "chromosom": [6, 15, 17, 29, 31, 45], "chromosomal_delet": 45, "chronic": 28, "chrx": 16, "cilium": 31, "circul": 31, "cl": [14, 25, 26, 27, 28, 30, 34, 45], "class": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 14, 15, 16, 17, 19, 23, 30, 34, 35, 45], "classifi": 26, "clearanc": 31, "clearli": 45, "click": [15, 34], "clinic": [15, 23, 25, 34, 35, 37, 40], "clinvar": [23, 34], "clone": 22, "cluster": 39, "cm000663": 16, "coagul": 31, "code": [1, 2, 3, 8, 15, 17, 22, 23, 26, 27, 28, 30, 34], "coding_sequence_vari": 15, "codon": [15, 21, 34, 45], "cohort": [0, 2, 3, 6, 7, 8, 10, 15, 17, 19, 21, 33, 36, 41, 42], "cohort_cr": [17, 23, 34, 40], "cohort_nam": 23, "cohort_s": 2, "cohortcr": [0, 17, 34], "cohortvariantview": [0, 19, 23], "cohortview": [0, 19, 23, 30], "coiled_coil": 15, "collect": [2, 5, 6, 7, 9, 12, 15, 17, 21, 23, 34, 40], "color": 8, "column": [1, 2, 3, 8, 10, 15, 28], "com": 22, "combin": [15, 23, 26, 45], "come": [16, 27, 30], "command": 22, "common": [1, 23, 29], "commonli": [16, 35], "compact": [6, 15], "compar": [4, 9, 10, 11, 12, 15, 24, 28, 29, 33, 38, 43, 44], "compare_genotype_vs_phenotyp": [3, 23, 26], "compare_genotype_vs_phenotype_scor": [8, 25, 27], "compare_genotype_vs_surviv": [10, 28], "comparison": [10, 15, 29, 44], "compil": 15, "complain": 17, "complet": [15, 17, 34, 35, 44], "complete_record": 1, "complex": 35, "compon": [23, 26, 27, 45], "composit": [15, 31, 34], "compositional_bia": 15, "compound": [6, 29, 31, 45], "comprehens": [21, 40], "comput": [1, 3, 6, 8, 9, 10, 11, 12, 17, 23, 26, 27, 28, 44], "compute_pv": [4, 9, 12], "compute_surviv": 10, "concentr": 31, "concept": [21, 32, 35], "conceptu": 15, "concern": [21, 27], "concis": 15, "conclus": 35, "condens": 31, "condit": [27, 35], "conduct": [23, 26, 30], "config": 0, "configur": [6, 17], "configure_caching_cohort_cr": [0, 17, 23, 34, 40], "configure_cohort_cr": [0, 17], "configure_default_protein_metadata_servic": [0, 17, 30, 34], "configure_ontology_stor": [23, 26, 27, 28, 30, 34, 35, 37, 40], "configure_phenopacket_registri": [23, 34, 40], "configure_protein_metadata_servic": [0, 17, 23], "congenit": [23, 26, 27], "connect": 31, "consequ": 15, "conserv": 15, "consid": [4, 6, 15, 16, 17, 26, 27, 31, 37], "consider": 31, "consist": [2, 15, 16, 34, 35], "consortium": 27, "constitut": 31, "construct": [17, 27, 40], "constructor": [2, 15, 35], "consult": [13, 30], "contain": [1, 2, 8, 15, 16, 17, 19, 23, 28, 31, 34], "contains_po": 16, "contemporari": 30, "content": 34, "context": [2, 21, 27, 35, 44], "contig": [15, 16, 34], "contig_by_nam": [15, 16, 32], "contigu": 16, "conting": [2, 3, 4, 26], "contingency_t": 26, "continuouspartit": [8, 10], "contribut": 30, "control": [23, 26, 35], "conveni": [7, 17, 34], "convers": 32, "convert": 17, "coordin": [6, 15, 16, 17, 19, 30, 32], "copi": 29, "cord": 31, "corneal": 31, "corpuscular": 31, "correct": [1, 3, 23, 31, 33], "corrected_pv": [1, 3], "correctli": 17, "correl": [0, 1, 2, 3, 21, 23, 24, 30, 31, 33, 34, 35, 45], "correspon": 28, "correspond": [1, 2, 3, 6, 7, 8, 15, 16, 17, 23, 26, 27, 30, 32, 33, 35, 37, 44, 45], "cortisol": 31, "could": [1, 3, 14, 26], "count": [1, 2, 3, 4, 6, 7, 8, 15, 19, 23, 26, 27, 30, 31, 33, 34, 37, 39, 44], "count_al": 15, "count_deceas": 15, "count_distinct_hpo_term": 15, "count_femal": 15, "count_mal": 15, "count_statist": [3, 23, 26, 35], "count_unknown_sex": 15, "count_unknown_vital_statu": 15, "count_with_age_of_last_encount": 15, "count_with_disease_onset": 15, "counter": 15, "countingphenotypescor": [1, 8, 27], "counts_fram": 2, "countstatist": [3, 4], "coveni": 15, "cover": [5, 41], "cpd_viewer": 30, "cranial": 31, "creat": [2, 6, 7, 8, 13, 15, 16, 17, 19, 21, 23, 25, 26, 27, 28, 30, 33, 35, 36, 37, 40, 44, 45], "create_variant_from_scratch": 15, "creator": 17, "criteria": [6, 39, 45], "criterion": 6, "cry": 31, "csf": 31, "ct": 15, "culprit": 2, "curat": 23, "curi": [2, 6, 8, 15, 17], "current": [13, 15, 16, 17, 19, 22, 34, 43], "custom": [8, 34, 44], "cut": 40, "cycl": 31, "cyp21a2": 25, "cytologi": 31, "cytometri": 31, "d": 15, "dai": [15, 17, 28], "danger": 30, "darksalmon": 8, "data": [1, 2, 3, 4, 8, 10, 15, 16, 17, 19, 21, 23, 25, 26, 27, 30, 33, 35, 39, 40, 45], "data_column": 1, "databas": 17, "datadir": 17, "datafram": [1, 2, 3, 4, 8, 10, 15, 19, 28, 34], "dataset": [23, 26, 30], "days_in_month": 15, "days_in_week": 15, "days_in_year": [15, 28], "de": [8, 33, 42], "death": [10, 11, 15], "decad": 28, "deceas": [11, 15, 23, 30], "decid": [2, 15, 30, 31], "decilit": 15, "decis": 2, "decod": [14, 18, 34], "deem": 31, "deep": 21, "def": [8, 14], "default": [2, 6, 13, 14, 17, 18, 19, 23, 26, 34, 35, 40, 44], "default_cache_path": [0, 13], "default_filt": [2, 23, 26, 35], "default_pars": 17, "defaultimprecisesvfunctionalannot": [0, 17], "defaulttermid": 2, "defect": [23, 26, 27, 30, 32], "defin": [3, 5, 6, 15, 28, 32, 36, 44], "definit": 15, "degre": 37, "dehydr": 34, "del": [6, 15, 32, 45], "delet": [6, 15, 23, 32, 45], "deliveri": 31, "demonstr": [23, 45], "denot": [15, 21], "depend": [1, 23, 24], "deposit": [26, 27], "deriv": 35, "descend": [6, 7, 8, 23, 27, 32, 37, 40], "describ": [8, 15, 17, 22, 25, 26, 27, 28, 30, 35, 40, 44, 45], "descript": [6, 7, 8, 15, 17, 25, 26, 27, 28, 36, 37, 40, 45], "design": [21, 30, 34, 35], "desir": [6, 17, 29, 31, 41], "despit": 23, "detail": [15, 23, 28, 35], "detect": 30, "determin": [6, 15, 17, 27, 35, 37], "develop": [15, 22, 28, 31, 35, 37], "deviat": [21, 26], "devri": 30, "devriesphenotypescor": [1, 8, 27, 37], "df": [15, 34], "diagnos": [6, 7, 11, 15, 38, 39], "diagnosi": [6, 7, 11, 33, 39], "diagnosis_pred": [5, 6, 38], "diagram": [19, 23, 30, 34], "dialog": 34, "dichotom": 26, "dict": [14, 17], "differ": [8, 10, 15, 16, 23, 24, 25, 26, 27, 28, 32, 33, 34, 35, 36, 37, 38, 41, 43, 44], "differenti": 21, "digest": 31, "digit": [23, 26], "dimension": 15, "dingeman": 37, "diploid": 15, "direct": [7, 15, 23, 35], "directori": [13, 17, 34], "disabl": [27, 35, 37], "discharg": 31, "discoveri": [23, 26, 35], "discret": [3, 4, 5, 41], "diseas": [0, 6, 7, 11, 15, 21, 23, 28, 30, 36, 38, 39, 40, 44], "disease_by_id": 15, "disease_id": 11, "disease_id_queri": 7, "disease_onset": [10, 11], "diseaseanalysi": [1, 3], "diseasepresencepred": [5, 7], "diseaseview": [0, 19], "disord": [23, 30, 34], "displai": [2, 6, 19, 23, 30, 34], "disproportion": 37, "distanc": 16, "distance_to": 16, "distinct": [15, 30], "distribut": [8, 12, 15, 19, 27, 33, 43], "divid": [26, 39], "dl": 15, "dna": [16, 31], "do": [2, 6, 8, 16, 17, 19, 22, 23, 34, 35, 40, 45], "doc": [25, 26, 27, 28, 30, 34, 45], "document": [21, 22, 24, 30, 34, 35], "doe": [2, 11, 13, 15, 17, 32], "domain": [2, 6, 15, 27, 31, 33, 34, 35, 45], "domin": [23, 29, 44], "done": [16, 22, 36, 39, 45], "donor": [15, 23], "dopamin": 31, "doubl": [8, 16], "down": [17, 40], "download": [15, 34], "downloaded_uniprot_json": 34, "downstream": [2, 16, 34, 41], "downstream_gene_vari": [15, 17], "dpi": [27, 28, 34], "draw": [8, 10, 19, 34], "draw_fig": [19, 34], "draw_protein_diagram": [19, 23, 30], "draw_vari": 19, "drawn": 19, "driven": 31, "drop": 28, "drug": 31, "due": [15, 17], "dump": 14, "dup": 15, "duplic": [15, 17, 32], "durat": 15, "dure": 15, "e": [1, 2, 3, 6, 7, 8, 10, 11, 15, 16, 17, 21, 23, 26, 27, 30, 31, 32, 34, 35, 36, 38, 40, 44], "each": [1, 2, 3, 6, 7, 8, 10, 15, 17, 19, 21, 23, 26, 27, 28, 29, 30, 33, 35, 37, 41], "ear": [31, 37], "easi": [22, 43], "easiest": 34, "easili": [19, 38], "ectopia": [38, 40], "eff": [27, 45], "effect": [6, 15, 17, 23, 27, 30, 34, 44, 45], "either": [2, 6, 7, 8, 15, 16, 19, 26, 27, 34, 37], "elabor": 45, "electrolyt": 31, "electrophysiologi": 31, "element": [15, 16, 17, 19], "els": 14, "elsewher": [28, 30], "embryon": 31, "empir": 28, "empti": [15, 16, 17], "enabl": 22, "encod": [6, 7, 14, 15, 17, 18, 23, 25, 26, 27, 28, 34, 45], "encount": [11, 15, 23, 30], "end": [6, 15, 16, 17, 23, 28, 32, 34], "end_on_strand": 16, "endocrin": 31, "endpoint": [1, 10], "energi": 31, "enrich": 35, "ensembl": 15, "enst00000123456": 15, "ensur": [18, 44], "ensure_ascii": 14, "enter": 30, "entir": 34, "entiti": [7, 15, 16, 17], "entri": [17, 34, 40], "enum": [15, 16], "enumer": 19, "environ": [13, 19, 22, 30], "enzym": 31, "epiphysi": 31, "equal": [1, 3, 6, 15, 27, 35], "equival": [8, 27], "error": [15, 17, 23, 30, 34, 35], "erythrocyt": 31, "erythroid": 31, "erythropoietin": 31, "et": [8, 21, 25, 27, 29, 34, 37], "etc": [15, 17], "evalu": [6, 21, 26, 27], "even": [3, 31, 34, 35], "ever": 2, "everi": 28, "exact": [4, 6, 8, 15, 17, 21, 23, 24, 27, 29, 30, 33, 35], "exactli": [6, 8, 35], "exampl": [1, 3, 4, 6, 7, 8, 9, 10, 14, 15, 17, 19, 23, 24, 29, 32, 33, 35, 38, 41, 45], "except": [14, 17, 45], "exclud": [2, 5, 7, 15, 16, 23, 26, 36, 40], "excluded_diseas": 15, "excluded_member_count": 15, "excluded_phenotyp": 15, "exclus": [5, 7, 23, 32, 41], "execut": [10, 25, 26, 27, 28], "exemplifi": 30, "exercis": [31, 34], "exhaust": 5, "exibit": 7, "exist": [13, 17, 30, 35], "exon": [6, 15, 28, 34, 45], "exon20": 45, "exon_numb": 6, "exons_effect": 15, "expect": [2, 15, 17, 26, 27, 31, 34, 35, 39], "expenditur": 31, "experiment": 30, "explan": [2, 24, 42], "explicit": [2, 7, 35], "explicitli": [15, 40], "explor": [26, 27, 33, 34, 40], "exploratori": 33, "expos": 26, "express": [10, 17, 26, 31], "extend": 27, "extern": 37, "extract": [15, 17], "extraocular": 31, "extrem": [23, 26, 35], "ey": [27, 31, 40], "f": [8, 21, 28], "face": 31, "fact": [35, 45], "factor": [30, 31, 34, 35, 39], "factori": 2, "fail": [2, 15], "fall": [8, 13], "fallback": [13, 17], "fals": [2, 3, 6, 7, 10, 14, 15, 16, 17, 23, 26, 28, 30, 35], "famili": [15, 23, 35, 38], "far": 27, "farthest": 27, "fascia": 31, "fbn1": [6, 15], "fdr": [26, 35], "fdr_bh": [1, 3, 23, 26, 35], "fdr_by": 35, "fdr_gb": 35, "fdr_tsbh": 35, "fdr_tsbky": 35, "featur": [6, 7, 10, 15, 21, 22, 26, 27, 30, 40, 45], "feature_elong": 15, "feature_id": 6, "feature_trunc": 15, "feature_typ": [6, 15], "featureinfo": [0, 15], "featuretyp": [0, 6, 15], "fecal": 31, "feel": 41, "feenstra": [8, 37], "femal": [15, 23, 30, 43], "fet": [24, 30, 33], "fetal": 31, "fetch": [17, 23, 30, 33], "fetch_for_gen": 17, "fetch_respons": 17, "few": [32, 34, 45], "fh": [18, 19, 25, 26, 27, 28, 30, 45], "fiber": 31, "fibrillin": 15, "fibrinolysi": 31, "fibroblast": 31, "fiction": [6, 44], "field": [11, 15, 29], "fig": [23, 27, 28, 30, 34], "figsiz": [23, 27, 28, 30, 34], "figur": [17, 19, 34], "file": [15, 17, 18, 19, 25, 26, 27, 28, 30, 34, 45], "filter": [2, 3, 15, 23, 26, 31, 32, 33], "filter_method_nam": 2, "final": [23, 40], "find": [3, 16, 17, 23, 26, 34, 35, 39], "find_coordin": 17, "finder": 17, "finger": [23, 26], "fingertip": 34, "finish": 25, "finit": 10, "first": [6, 13, 15, 23, 26, 27, 30, 34, 35, 36, 39], "fisher": [4, 21, 23, 24, 29, 30, 33, 35, 42], "fisher_exact": [4, 26], "fisherexacttest": [3, 4, 23, 26, 35], "fit": 15, "five": 27, "five_prime_utr_vari": [15, 17], "fix": [34, 36], "flexibl": [26, 45], "flip": 16, "float": [1, 2, 3, 4, 8, 9, 10, 12, 15, 17, 26, 27], "flow": 31, "fluid": 31, "focal": 32, "focu": [21, 23], "fold": 15, "folder": [13, 17, 34], "follow": [3, 6, 10, 11, 15, 22, 23, 25, 26, 27, 28, 30, 31, 32, 34, 35, 37, 41, 44, 45], "foot": 31, "for_sampl": 15, "forearm": 31, "form": [4, 31, 34], "formal": 30, "format": [7, 15, 16, 17, 19, 30, 34], "format_as_str": 19, "format_coordinates_for_vep_queri": 17, "formatt": [0, 19], "formul": [30, 34], "forward": 16, "found": [15, 17, 23, 27, 30, 34, 35, 37], "four": [30, 34], "fpath_cache_dir": 17, "fpath_cohort": 30, "fpath_cohort_json": [25, 26, 27, 28, 45], "fragment": 15, "frame": [1, 2, 3, 4, 8, 10, 15, 19, 25, 27, 34, 45], "frameshift": [44, 45], "frameshift_vari": [15, 23, 26, 27, 30, 44, 45], "framework": 27, "free": 41, "frequenc": [2, 19, 23, 26, 35], "frequent": [23, 30, 32], "friendli": 2, "from": [2, 5, 6, 8, 10, 11, 12, 14, 15, 16, 17, 18, 21, 22, 23, 25, 26, 27, 28, 30, 31, 32, 33, 35, 36, 37, 38, 40, 41, 43, 44, 45], "from_curi": 40, "from_feature_fram": [15, 34], "from_iso8601_period": 15, "from_map": 15, "from_measurement_id": [8, 25], "from_pati": 15, "from_query_curi": [8, 27], "from_raw_part": 15, "from_str": 15, "from_term": 15, "from_uniprot_json": [15, 34], "from_vcf_liter": [15, 32], "from_vcf_symbol": [15, 32], "fuction": 17, "func": 8, "funcformatt": 28, "function": [4, 6, 7, 8, 9, 12, 15, 17, 18, 19, 23, 26, 27, 30, 31, 34, 40, 44, 45], "functional_annot": 17, "functionalannot": [0, 17], "functionalannotationawar": [0, 15], "further": [23, 27, 40], "furthermor": 34, "fwer": 35, "g": [1, 2, 3, 6, 7, 8, 10, 11, 15, 16, 17, 21, 23, 27, 30, 31, 32, 34, 35, 36, 38, 40, 44, 45], "ga": 31, "ga4gh": [15, 21, 23, 25, 26, 27, 28, 33, 45], "gain": 23, "galleri": 33, "ganglion": 31, "gastrin": 31, "gastrointestin": 31, "gather": 30, "gb_acc": 16, "ge": [26, 44], "genbank": 16, "genbank_acc": 16, "gene": [6, 15, 17, 23, 26, 27, 29, 30, 34, 36, 40, 45], "gene_coordinate_servic": 17, "gene_id": 15, "gene_nam": 15, "gene_symbol": 15, "genecoordinateservic": [0, 17], "gener": [1, 2, 3, 5, 7, 15, 17, 19, 21, 23, 26, 30, 33, 41], "general_hpo_term": 2, "genet": 21, "genit": 31, "genitourinari": 31, "genom": [6, 15, 17, 21, 23, 30, 32, 34, 45], "genome_build": [17, 23, 30, 34], "genome_build_id": 16, "genomebuild": [15, 16, 17], "genomebuildidentifi": [15, 16], "genomicinterpret": 17, "genomicregion": [15, 16, 34], "genotyp": [0, 1, 2, 3, 4, 5, 8, 9, 10, 11, 15, 17, 21, 24, 30, 31, 33, 36, 38, 41, 43, 45], "genotype_for_sampl": 15, "genotypepolypred": [1, 2, 3, 5, 6, 8, 10, 41], "gestat": [11, 15, 37], "gestational_dai": 15, "get": [1, 2, 3, 4, 5, 6, 7, 8, 10, 11, 13, 15, 16, 17, 18, 19, 33, 35], "get_annot": 17, "get_cache_dir_path": [0, 13, 17], "get_categor": [5, 7, 25, 27], "get_categori": 5, "get_category_nam": 5, "get_cds_region": [15, 34], "get_coding_base_count": [15, 34], "get_codon_count": [15, 34], "get_excluded_count": 15, "get_features_variant_overlap": 15, "get_five_prime_utr": [15, 34], "get_hgvs_cdna_by_tx_id": 15, "get_maximum_group_observed_hpo_frequ": 2, "get_number_of_observed_hpo_observ": 2, "get_patient_id": 15, "get_preferred_tx_annot": 15, "get_quest": 6, "get_respons": 17, "get_three_prime_utr": 15, "get_tx_anno_by_tx_id": 15, "get_variant_by_kei": [15, 45], "gg": [15, 17], "git": 22, "github": [22, 41], "give": [6, 34], "given": [2, 6, 7, 10, 15, 17, 18, 19, 37, 40], "gland": 31, "glial": 31, "gln151ter": 23, "gln302argfster92": [23, 30], "gln315argfster79": [23, 30], "gln421ter": 15, "gln456ter": 23, "gln49ly": 23, "global": [21, 37], "globe": 31, "glossari": 33, "glu294ter": [23, 30], "glucagon": 31, "glucocorticoid": 31, "glucos": 31, "gly125alafster25": 23, "gly195ala": 23, "gly80arg": [23, 30], "glycolipid": 31, "glycoprotein": 31, "glycosaminoglycan": 31, "glycosyl": 31, "go": 15, "gonadotropin": 31, "good": [23, 34], "gov": 29, "gp": 23, "gpc": 33, "gpsea": [20, 22, 23, 24, 25, 26, 27, 28, 29, 30, 32, 33, 34, 36, 37, 38, 40, 41, 42, 43, 44, 45], "gpsea_cach": [13, 17], "gpsea_cachedir": 13, "gpseajsondecod": [0, 14, 25, 26, 27, 28, 30, 34, 45], "gpseajsonencod": [0, 14, 34], "gpseareport": [0, 19, 30], "granulocytopoiet": 31, "graph": [7, 26], "graphic": [19, 26, 30], "grch37": [16, 17, 34], "grch38": [15, 16, 17, 23, 30, 32, 34], "great": 35, "greater": 35, "grid": [27, 28], "group": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 23, 24, 25, 28, 29, 33, 34, 37, 39, 41, 45], "group1": 27, "group2": 27, "group_label": [5, 23, 25, 26, 27, 28, 36, 38, 40, 43, 44], "growth": [31, 34], "gt": 15, "gt_col": 1, "gt_id_to_nam": [25, 27], "gt_predic": [1, 2, 3, 8, 10, 23, 25, 26, 27, 28, 36, 38, 43, 44], "guid": [21, 23, 34], "h": [15, 35], "h_1": 4, "ha": [1, 2, 3, 6, 7, 8, 10, 11, 15, 16, 23, 26, 27, 30, 31, 34, 37], "had": [2, 23, 30], "hair": 31, "hallmark": 7, "hand": [23, 26, 31, 34, 37], "handl": [5, 18, 19], "happen": 3, "harbor": [27, 36, 44], "has_sv_info": 15, "has_variant_coordin": 15, "hashabl": 15, "have": [2, 8, 15, 26, 34, 35, 37, 44], "head": [25, 27, 28, 31], "health": 21, "hear": 27, "heart": [23, 26, 27, 31, 37], "height": 31, "helic": 15, "help": 23, "hematocrit": 31, "hemizyg": 15, "hemoglobin": 31, "henc": [22, 26], "hepat": 31, "hepatobiliari": 31, "here": [1, 6, 16, 23, 26, 27, 28, 32, 34, 37, 40, 41, 44], "hereditari": 34, "heterozyg": [15, 26, 36, 39], "heterozygot": 29, "heurist": [2, 23, 31, 35], "hgnc": [15, 17], "hgv": [15, 17, 19], "hgvs_cdna": 15, "hgvs_coordinate_find": 17, "hgvsp": 15, "hierarch": 31, "hierarchi": [2, 28, 37, 40], "high": 15, "higher": [26, 27, 37], "highest": 15, "hip": 31, "his1435arg": 45, "his220del": 23, "his445metfster137": 23, "histidin": 45, "histori": 35, "hkd": 30, "hmf01": [23, 26], "hmf02": 2, "hmf03": 2, "hmf05": 2, "hmf07": 2, "hmf08": [2, 23, 26], "hmf09": [23, 26], "ho": 35, "hochberg": [1, 3, 23, 26, 35], "holm": 35, "holt": [23, 30, 45], "homeostasi": 31, "hommel": 35, "homo": 6, "homovanil": 31, "homozygot": 29, "homozygous_altern": 15, "homozygous_refer": 15, "honeydew": 8, "hormon": 31, "how": [16, 22, 23, 24, 34, 40, 45], "howev": [5, 10, 16, 22, 23, 26, 32, 39, 41, 45], "hp": [1, 2, 3, 7, 8, 15, 17, 23, 26, 27, 28, 30, 31, 35, 37, 40], "hpo": [2, 3, 7, 8, 11, 15, 17, 19, 21, 25, 26, 28, 30, 33, 34, 37, 41, 42], "hpo_mtc": 35, "hpo_onset": [10, 11, 28], "hpomtcfilt": [1, 2, 23, 26, 35], "hpopred": [5, 7, 40], "hpotermanalysi": [1, 3, 23, 26, 35, 40], "hpotermanalysisresult": [1, 3, 19], "hpotk": [2, 23, 26, 27, 28, 30, 34, 35, 37, 40], "html": 19, "http": [22, 29], "human": [2, 15, 16, 19, 21, 30, 34, 37], "humor": 31, "hundr": 35, "hypertelor": 37, "hypoplasia": [23, 26, 30], "hypospadia": 37, "hypothalamu": 31, "hypothes": [26, 30, 33, 34, 35], "hypothesi": [2, 12, 23, 26, 30, 35], "i": [0, 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 21, 22, 23, 26, 27, 28, 29, 30, 31, 32, 34, 35, 36, 37, 39, 40, 41, 43, 44, 45], "id": [1, 5, 6, 7, 8, 10, 15, 17, 19, 23, 30, 31, 32, 34, 39], "ident": 29, "identifi": [1, 6, 8, 15, 16, 23, 28, 30, 31, 34, 37, 38], "idividu": 26, "idx": 2, "ignor": [9, 17, 34], "ii": 31, "ile106v": 23, "ile227_glu228inst": 23, "ile54thr": 23, "illustr": [23, 26], "img": 34, "immun": 31, "impair": 27, "implement": [4, 6, 10, 14, 17, 24, 26, 29, 33, 34, 37, 43, 44, 45], "implementor": 15, "impli": [7, 26, 32, 35], "implicitli": [32, 40], "import": [4, 6, 8, 15, 16, 23, 25, 26, 27, 28, 30, 32, 34, 35, 36, 37, 38, 40, 43, 44, 45], "impos": 4, "imposs": [8, 10, 28], "imprecis": [15, 17], "imprecise_sv_functional_annot": 17, "imprecisesvfunctionalannot": [0, 17], "imprecisesvinfo": [0, 15, 17], "includ": [1, 2, 3, 4, 5, 6, 7, 8, 10, 15, 16, 17, 19, 21, 23, 25, 26, 27, 28, 33, 34, 36, 39, 40, 44], "include_computational_tx": 17, "include_ontology_class_onset": 17, "include_patients_with_no_hpo": 15, "include_patients_with_no_vari": 15, "inclus": [6, 39, 45], "incomplete_terminal_codon_vari": 15, "increas": [23, 26, 30], "indel": 15, "indent": [14, 17], "independ": 35, "index": [1, 6, 8, 10, 15, 22, 28, 31, 44], "indic": [1, 3, 15, 44], "indirect": [23, 26, 35], "individu": [1, 2, 3, 5, 6, 7, 8, 10, 11, 12, 15, 21, 23, 25, 26, 27, 28, 29, 30, 32, 34, 35, 37, 38, 39, 40, 41, 43, 44, 45], "infer": 23, "inflammatori": 31, "info": [2, 3, 6, 15, 17, 23, 26, 30, 32, 45], "inform": [6, 10, 15, 19, 21, 23, 30, 33, 34, 35, 37, 41], "infram": 23, "inframe_delet": [15, 23, 30], "inframe_insert": [15, 23, 30], "ingest": 21, "inherit": [25, 35, 39], "inhibin": 31, "initi": [7, 15, 22], "inner": [6, 31], "input": [2, 17, 18, 19, 21, 23, 30, 33], "insert": [15, 17, 23, 32], "insight": [23, 31, 34], "instal": [21, 34], "instanc": [2, 4, 5, 6, 7, 8, 15, 17, 26, 27, 29, 30, 32, 34, 35, 36, 37, 40, 44, 45], "instanti": 34, "instead": [6, 15, 35, 44], "instruct": [21, 25, 26, 27, 28, 45], "insulin": 31, "int": [1, 2, 3, 4, 5, 6, 15, 16, 17, 19], "integ": 15, "integr": [22, 30, 34], "integu": 31, "intellectu": [27, 37], "intend": [8, 15], "inter": [27, 41], "interact": [15, 19, 33], "interest": [6, 7, 15, 17, 23, 26, 30, 31, 33, 35, 44], "intergenic_vari": [15, 17], "intern": 15, "internet": 22, "interpret": [17, 18, 27, 39], "intersect": 16, "interspers": 15, "interv": 16, "intestin": 31, "intracrani": 31, "intraocular": 31, "intrauterin": 37, "introduct": 33, "intron": [15, 23], "intron_vari": [15, 17, 23, 30, 45], "inv": 15, "invers": [6, 15, 45], "investig": [7, 8, 10, 15, 23, 25, 43], "invoc": 22, "involv": [15, 23, 26, 34, 35], "io": [0, 15, 17, 18, 19, 25, 26, 27, 28, 30, 34, 45], "iobas": [15, 18, 19], "ion": 31, "ip3": 15, "ipython": [19, 30], "iqr": 27, "is_al": 15, "is_censor": [10, 28], "is_cod": [15, 34], "is_deceas": 15, "is_empti": 16, "is_femal": 15, "is_filtered_out": 2, "is_frameshift": [26, 44], "is_gest": 15, "is_in_exon3": 28, "is_large_imprecise_sv": 6, "is_mal": 15, "is_missens": [25, 44], "is_neg": 16, "is_observ": 15, "is_ok": 17, "is_pass": 2, "is_posit": 16, "is_postnat": 15, "is_pref": 15, "is_pres": 15, "is_provid": 15, "is_structur": 15, "is_structural_delet": 6, "is_structural_vari": 6, "is_unknown": 15, "islet": 31, "iso8601": 15, "iso8601pt": 15, "isoform": [15, 34], "issu": [2, 15, 17, 21, 23, 34, 41], "item": [2, 3, 5, 17, 19, 32], "iter": [1, 2, 3, 5, 6, 7, 8, 10, 12, 14, 15, 16, 17, 19, 35], "iter_cohort_phenopacket": [23, 34, 40], "its": [7, 11, 15, 19, 27, 32, 40, 41, 45], "j": 3, "jinja2": 19, "joint": 31, "jordan": 27, "json": [14, 15, 17, 25, 26, 27, 28, 30, 45], "jsondecod": 14, "jsonencod": 14, "jt": 29, "judgment": [31, 35], "jupyt": [19, 21, 30], "just": [15, 17, 19, 23, 25, 34], "juvenil": 17, "k": 44, "keep": 7, "kei": [6, 15, 21, 23, 30], "kidnei": [8, 27, 28], "kind": [17, 29, 33], "know": [11, 15, 16, 17, 34], "known": [11, 15, 30, 40], "kwarg": 14, "lab": 25, "label": [6, 8, 11, 15, 19, 25, 28, 31, 34, 38], "label_summari": 15, "labeling_method": 19, "laboratori": 27, "lack": [7, 10, 17, 35], "lactat": 31, "lambda": 28, "langerhan": 31, "larg": [6, 15, 16, 17, 31], "larger": 15, "last": [10, 11, 13, 15, 23, 26, 27, 30, 35], "last_menstrual_period": 15, "later": [25, 26, 27, 28, 33, 45], "latest": 23, "lead": [6, 15, 23, 26, 27, 31, 32, 35, 36, 45], "learn": [23, 26], "least": [2, 6, 17, 23, 26, 27, 35, 41, 44, 45], "leav": [21, 34], "left": 16, "legend": [10, 19, 25], "leigh": 15, "len": [15, 23, 25, 26, 27, 28, 30, 32, 34, 35, 40, 45], "length": [6, 15, 16, 27, 30, 33, 45], "lenient": 17, "lenti": [38, 40], "leptin": 31, "less": [1, 3, 6, 23, 26, 35], "let": [14, 15, 26, 27, 28, 32, 34, 35, 36, 44, 45], "letter": 34, "leu435argfster147": 23, "leu65glnfster10": 23, "leu94arg": 23, "leukocyt": 31, "level": [1, 3, 8, 15, 23, 26, 27, 30, 31, 34, 45], "leverag": [2, 28, 30, 34, 37, 40, 45], "li": [16, 29], "librari": [0, 16, 22, 24, 34], "life": 26, "like": [14, 19, 21, 31, 35], "limb": [23, 26, 31], "limit": [2, 35, 37], "line": [15, 22, 27, 28], "lineag": 31, "link": 39, "liposaccharid": 31, "list": [6, 7, 8, 14, 15, 23, 31, 40, 41], "list_all_diseas": 15, "list_all_protein": 15, "list_all_vari": 15, "list_measur": 15, "list_present_phenotyp": 15, "liter": [1, 3, 6, 11, 15, 17, 19, 32], "literatur": [6, 23], "liver": [8, 31], "ll": 34, "lmna": 36, "load": [14, 17, 30, 37, 40], "load_minimal_hpo": [23, 26, 27, 28, 30, 34, 35, 37, 40], "load_phenopacket": [0, 17, 23, 34, 40], "load_phenopacket_fil": [0, 17, 34], "load_phenopacket_fold": [0, 17, 34], "loader": 34, "local": [17, 18, 30], "locat": [15, 16, 17, 21, 23, 30, 31, 34, 45], "locu": [15, 44], "lof": 27, "lof_effect": 27, "lof_mut": 27, "log": [12, 28, 30, 42], "logic": [35, 37, 45], "logrank": 12, "logranktest": [10, 12, 28], "loinc": [8, 15, 25], "long": 26, "loss": [15, 27, 44], "lost": 11, "lower": [26, 31, 45], "lump": 44, "ly": 27, "lymph": 31, "lymphat": 31, "lymphocyt": 31, "lys226asn": 23, "lys88ter": 23, "lysosom": 31, "m": [4, 15, 22], "macrocephali": 37, "macroscop": 31, "made": [23, 35], "magic": 30, "mai": [3, 8, 10, 15, 17, 26, 27, 30, 34, 35, 36, 44, 45], "main": [23, 27, 34], "major": [16, 41], "major_assembli": 16, "major_formatt": 28, "major_loc": 28, "make": [6, 30, 35], "male": [15, 23, 30, 43], "mandatori": 15, "mane": [15, 23, 25, 26, 27, 28, 34, 45], "mane_pt_id": 34, "mane_tx_id": 34, "mani": [23, 24, 30, 31, 33, 34, 35, 40, 41, 45], "manifest": [21, 34], "mann": [8, 9, 24, 30, 33, 37, 42], "mannwhitneystatist": [8, 9, 27], "mannwhitneyu": [9, 27], "manual": [15, 30], "map": [2, 15, 17, 19], "marfan": 38, "marker": [19, 31], "marker_count": 19, "marrow": 31, "mass": [8, 15, 25, 27, 31], "match": [6, 8, 11, 27, 39], "matern": 29, "math": 8, "matplotlib": [8, 10, 19, 23, 27, 28, 30, 34], "matrix": [2, 3], "matur": 31, "mature_mirna_vari": 15, "maxim": 41, "maximum": [2, 23, 26, 37], "me": 15, "mean": [15, 26, 27, 31, 35], "meaning": 5, "measur": [0, 8, 15, 24, 27, 30, 31, 33], "measurement_by_id": 15, "measurementphenotypescor": [1, 8, 25, 27], "median": 27, "mediastinum": 31, "medic": [21, 31, 35], "medicin": 21, "meet": [6, 15, 27, 39, 45], "megakaryocyt": 31, "member": [10, 15, 17, 26, 28, 34, 35], "membran": 31, "mendelian": 21, "menstrual": 15, "mental": 31, "mesenteri": 31, "messag": 14, "met": 45, "met74il": 23, "met83phefster6": 23, "meta_label": [15, 34], "metabol": 31, "metabolit": 31, "metadata": [17, 19], "metaphysi": 31, "method": [2, 3, 6, 7, 14, 15, 16, 17, 23, 27, 34, 35], "mhc": 31, "micro": 37, "microcephali": 37, "middl": 31, "midpoint": 17, "midwif": 15, "might": [29, 30], "mild": [37, 44], "mim": 23, "miner": 31, "minimalontologi": [2, 7, 8, 11, 17, 19, 40], "minimalterm": 15, "minimum": 2, "mininum": 35, "miss": [10, 11, 17, 23, 35, 41], "missens": [1, 2, 3, 6, 15, 21, 25, 26, 27, 29, 32, 35, 39, 44, 45], "missense_and_exon20": 45, "missense_or_nonsens": 45, "missense_vari": [1, 3, 6, 15, 23, 25, 27, 30, 44, 45], "missing_implies_exclud": 7, "missing_implies_phenotype_exclud": 7, "mitig": [26, 35], "mitochondrion": 31, "mixin": 16, "mnv": 15, "mode": [17, 35, 39], "model": [0, 2, 6, 23, 25, 26, 27, 28, 30, 32, 34, 44, 45], "moder": 37, "modifi": 35, "modul": [0, 15, 16, 27, 30, 34], "moment": 17, "monarch": 22, "mondo": 7, "monoallel": [6, 28], "monoallelic_pred": [5, 6, 23, 26, 27, 28, 44], "monophenotypeanalysisresult": [0, 1, 8, 10], "month": 15, "more": [1, 2, 3, 6, 8, 9, 12, 15, 17, 19, 22, 23, 26, 27, 30, 31, 33, 34, 37, 38, 44, 45], "morpholog": 31, "morphologi": [8, 21, 23, 26, 27, 30, 31, 32, 35, 37, 40], "mortal": 30, "most": [15, 16, 19, 23, 30, 31, 34, 35, 41], "mostli": [15, 41], "motif": [15, 21], "motil": 31, "motor": [23, 31], "movement": 31, "mpl": 28, "mri": 31, "mtc": [2, 3, 19, 23, 26, 31, 33], "mtc_alpha": [3, 23, 26], "mtc_correct": [1, 3, 23, 26, 35], "mtc_filter": [1, 3, 23, 26, 35], "mtc_filter_nam": 3, "mtc_filter_result": 3, "mtc_issu": 2, "mtc_report": [23, 26], "mtc_viewer": [23, 26], "mtcstatsview": [0, 19, 23, 26], "much": [2, 30, 31, 35, 45], "mucociliari": 31, "mucosa": 31, "mucu": 31, "multi": [15, 45], "multiphenotypeanalysi": [1, 3, 35], "multiphenotypeanalysisresult": [0, 1, 3], "multipl": [1, 2, 3, 23, 31, 33, 45], "multipleloc": 28, "multipli": 35, "muscl": 31, "muscular": 26, "musculatur": 31, "musculoskelet": 31, "must": [2, 3, 5, 6, 7, 8, 10, 15, 17, 22, 27, 30, 34, 35, 38, 41, 44, 45], "mutat": [23, 25, 26, 27, 28, 30, 34, 40, 44, 45], "mutlipl": 35, "myelin": 31, "myeloid": 31, "n": [2, 4, 6, 15, 23, 30, 31, 40], "n_categor": 5, "n_filtered_out": 3, "n_significant_for_alpha": [1, 3], "n_usabl": [1, 2, 3], "nacgtacgtac": 15, "nail": 31, "name": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 13, 15, 16, 17, 23, 25, 27, 28, 30, 34, 38, 40, 44], "nan": [1, 3, 8, 9, 10, 25, 27], "nanogram": 15, "nasal": [31, 37], "natur": 15, "nc_000001": 16, "ncbi": [23, 29], "ncit": 15, "ndarrai": 19, "neck": 31, "need": [15, 17, 23, 26, 28, 33, 34, 35, 40, 44], "neg": [6, 15, 16, 17, 32], "neoplasm": 31, "neopterin": 31, "neq": 44, "nerv": 31, "nervou": [31, 32, 35], "net": 15, "network": 34, "neuron": 31, "never": [16, 35], "new": 19, "next": [23, 34, 36, 45], "ng": 15, "nih": 29, "nippl": 31, "nlm": 29, "nm_000500": 25, "nm_001042681": [27, 45], "nm_002834": 17, "nm_003361": 28, "nm_005912": 17, "nm_013275": 45, "nm_123": 6, "nm_1234": [6, 44], "nm_123456": [1, 3, 6, 15], "nm_170707": 15, "nm_181486": [23, 26, 30, 34], "nmd_transcript_vari": 15, "no_cal": 15, "no_genotype_has_more_than_one_hpo": 2, "node": 31, "nomin": [1, 3, 35], "non": [2, 3, 6, 10, 15, 17, 23, 26, 27, 35, 45], "non_coding_transcript_exon_vari": [15, 17], "non_coding_transcript_vari": [15, 17], "non_frameshift_del": 45, "non_frameshift_effect": 45, "non_frameshift_pred": 45, "non_specified_term": 2, "noncoding_effect": 17, "none": [1, 2, 3, 4, 5, 6, 7, 8, 10, 11, 13, 14, 15, 16, 17, 19, 23, 27, 28, 34, 35, 37, 41, 44], "nonfaci": 37, "nons": 29, "nonsens": [2, 3, 6, 25, 26, 29, 35, 45], "normal": 21, "nose": 37, "notat": [15, 32], "note": [2, 3, 7, 13, 15, 16, 23, 26, 34, 35, 37, 38, 43, 44, 45], "notebook": [19, 21, 30], "notepad": 17, "noth": 45, "novel": 15, "now": [15, 23, 25, 26, 27, 28, 34, 35, 40, 44], "np_": 23, "np_000129": 15, "np_001027558": 17, "np_001027559": 15, "np_037407": 17, "np_852259": [23, 30, 34], "nuclear": 15, "nucleobas": 31, "nucleotid": [15, 23, 32, 45], "nucleu": 35, "nul": 15, "null": 35, "number": [1, 2, 3, 4, 5, 6, 8, 15, 16, 23, 27, 28, 31, 35, 37], "numer": [15, 30], "o": 14, "obj": 14, "object": [1, 2, 6, 8, 10, 14, 15, 16, 17, 19, 34], "object_hook": 14, "observ": [2, 8, 15, 21, 23, 26, 30, 40], "observablefeatur": 15, "obtain": [15, 17, 23, 34, 35, 37], "obvious": 30, "occipitofrontali": 31, "occur": [15, 23, 27, 30, 34], "occurr": 23, "oddsratio": 26, "odontoid": 31, "off": [41, 45], "offer": [24, 30, 35, 37, 42, 45], "offlin": 17, "often": 15, "ok": [2, 17], "oldest": 35, "omim": [7, 8, 23, 30, 38], "omit": [2, 23, 26, 35, 38, 41, 43, 44], "onc": [26, 34], "one": [2, 5, 6, 7, 8, 15, 17, 22, 23, 26, 27, 28, 29, 30, 31, 34, 36, 37, 41, 44], "one_genotype_has_zero_hpo_observ": 2, "ones": 17, "onli": [2, 5, 6, 7, 15, 17, 23, 26, 29, 30, 35, 40], "onlin": 22, "only_hgv": 19, "onset": [10, 11, 15, 17, 23, 28, 30, 31, 32], "onsetawar": 15, "onto": 19, "ontologi": [2, 7, 15, 17, 21, 23, 32, 34, 37], "ontology_class": 17, "ontologyclass": 17, "oocyt": 31, "open": [18, 25, 26, 27, 28, 30, 34, 41, 45], "open_phenopacket_stor": [23, 34, 40], "open_text_io_handle_for_read": [0, 18], "open_text_io_handle_for_writ": [0, 18], "oper": [6, 15, 45], "oppos": 15, "opposit": 16, "option": [2, 6, 7, 15, 17, 22, 23, 34, 35, 40, 44], "oram": [23, 30, 45], "order": [2, 15, 23, 26, 30, 34, 44], "organ": [15, 27, 31], "orgogozo": 21, "origin": 37, "orthogon": 39, "osmol": 31, "osteocalcin": 31, "other": [2, 15, 16, 17, 19, 21, 23, 25, 26, 28, 29, 34, 35, 36, 37, 39, 44], "otherwis": [6, 7, 10, 15, 37], "our": [23, 24, 26, 28, 31, 35, 37, 41], "out": [2, 3, 5, 16, 17, 23, 26, 27, 28, 32, 34, 35], "outcom": [1, 3], "outer": [6, 31], "output": [17, 18, 19], "over": 15, "overal": [2, 35], "overlap": [3, 6, 15, 16, 19, 28, 45], "overlapping_exon": 15, "overlaps_with": [15, 16], "overlaps_with_fifth_aa": 6, "overlaps_with_first_20": 6, "overload": [15, 45], "overrepres": 15, "overview": [23, 24, 30], "own": 16, "p": [1, 2, 3, 4, 7, 8, 9, 12, 15, 19, 21, 23, 26, 30, 34, 35, 40, 45], "p10y": 15, "p10y4m2d": 15, "p13": [16, 17], "p22w3d": 15, "p2w6d": 15, "p_valu": [26, 27], "packag": [20, 21, 22, 35], "page": [15, 23, 30, 33, 41], "pair": [3, 4, 6, 12, 15, 32], "pancrea": 31, "pancreat": 31, "panda": [2, 15, 34], "param": [6, 15, 16, 17], "paramet": [1, 2, 3, 5, 6, 7, 8, 10, 12, 14, 15, 16, 17, 18, 19], "parametr": 27, "parathyroid": 31, "parent": [3, 17, 35, 37], "pars": [15, 17], "parse_multipl": 17, "parse_respons": 17, "parse_uniprot_json": 17, "parser": 17, "part": [1, 15, 19, 34, 37], "particular": 30, "partit": [1, 5, 6, 7, 8, 10, 25, 36, 41, 43], "pass": [2, 6, 14, 15, 32, 35], "past": 35, "patch": [8, 16], "patern": 29, "path": [13, 15, 17, 18, 19, 23, 26, 33, 34, 40], "pathogen": [23, 34, 45], "patient": [0, 1, 2, 3, 5, 6, 7, 8, 10, 15, 17, 19, 21, 23, 26, 27, 34, 35, 36, 40, 41], "patient_1": 10, "patient_2": 10, "patient_3": 10, "patient_4": 10, "patient_cr": 17, "patient_id": [10, 15, 25, 27, 28], "patientcategori": [5, 7], "patientcr": [0, 17], "pattern": 31, "payload": 17, "pcat": [1, 23, 26, 35], "pd": [15, 34], "pediatr": 17, "pehnotyp": 2, "peptid": 31, "per": 15, "percent": [23, 26, 30], "percentag": 35, "perform": [4, 15, 17, 21, 23, 26, 27, 29, 30, 33, 34, 35], "perifollicular": 31, "period": 15, "peripher": 31, "peritoneum": 31, "permiss": [17, 34], "peroxisom": 31, "persist": [25, 26, 27, 28, 33, 45], "ph": [30, 31], "ph_col": 1, "ph_predic": 2, "phagocytosi": 31, "phe168leufster6": 23, "pheno_pred": [1, 3, 23, 26, 40], "pheno_scor": [8, 25, 27, 37], "phenopacket": [15, 17, 21, 23, 25, 26, 27, 28, 30, 33, 40, 45], "phenopacket1": 34, "phenopacket2": 34, "phenopacket_registri": 23, "phenopacketontologytermonsetpars": [0, 17], "phenopacketpatientcr": [0, 17], "phenopacketvariantcoordinatefind": [0, 17], "phenotyp": [0, 1, 2, 3, 4, 5, 8, 9, 10, 11, 15, 17, 21, 24, 28, 30, 31, 33, 37, 39, 41, 45], "phenotype_by_id": 15, "phenotype_cr": 17, "phenotype_scor": [8, 27], "phenotypecategor": [5, 7], "phenotypemtcfilt": [1, 2, 3, 23, 35], "phenotypemtcissu": [1, 2], "phenotypemtcresult": [1, 2, 3], "phenotypepolypred": [1, 2, 3, 5, 7, 41], "phenotypescor": [1, 8, 9], "phenotypescoreanalysi": [1, 8, 25, 27, 28], "phenotypescoreanalysisresult": [1, 8], "phenotypescorestatist": [8, 9], "phenotypic_abnorm": 2, "phosphat": 31, "physician": 15, "physiolog": 31, "physiologi": [21, 31, 32], "pickl": 17, "piec": [15, 23], "piezo1": 34, "pineal": 31, "pinna": 37, "pip": 22, "pituitari": 31, "place": [21, 34], "placent": 31, "placenta": 31, "plan": 30, "plasma": [8, 15, 25, 27], "plate": 34, "platelet": 31, "platysma": 31, "pld1": 30, "pleas": [30, 41], "plot": [8, 10, 19, 28, 33], "plot_boxplot": [8, 27], "plot_kaplan_meier_curv": [10, 28], "plt": [19, 23, 27, 28, 30, 34], "plu": [6, 15], "pm": [23, 34], "pm_servic": 30, "pmid": 23, "pmid_22034507_aii_1": 28, "pmid_22034507_aii_2": 28, "pmid_22034507_aii_3": 28, "pmid_22034507_aii_5": 28, "pmid_22034507_aiii_4": 28, "pmid_27087320_subject_1": 27, "pmid_27087320_subject_10": 27, "pmid_27087320_subject_2": 27, "pmid_29330883_subj": 34, "pmid_29330883_subject_1": 27, "pmid_29330883_subject_2": 27, "pmid_30968594_individual_10": 25, "pmid_30968594_individual_11": 25, "pmid_30968594_individual_12": 25, "pmid_30968594_individual_13": 25, "pmid_30968594_individual_14": 25, "png": 34, "po": [15, 16, 28, 32], "point": [15, 17, 27, 34, 37], "point_mut": 27, "point_mutation_effect": 27, "polar": [34, 35], "polici": [17, 23, 34], "polypred": [1, 5, 6, 7], "pore": 34, "port": 16, "posit": [3, 6, 15, 16, 17, 23, 30, 32, 35], "posixpath": 13, "possibl": [2, 3, 5, 8, 29, 30, 34, 43], "possible_result": 2, "possibli": 39, "posterior": [31, 35], "postnat": [11, 15], "postnatal_dai": 15, "postnatal_year": 15, "potassium": 30, "potenti": [27, 33], "power": [33, 35, 41], "pp": 17, "pp_dir": 34, "pp_directori": 17, "pp_file": 17, "pp_file_path": 34, "ppktstore": [23, 34, 40], "practic": 29, "pre": 2, "precis": 21, "precursor": 31, "predic": [1, 2, 3, 4, 8, 10, 33, 36, 38, 43], "predict": [6, 15, 23, 26, 27, 34, 44, 45], "predictor": [17, 34], "prefer": [15, 30], "preimplant": 31, "prematur": 21, "prenat": 31, "prepar": [3, 6, 7, 15, 17, 25, 26, 27, 28, 34, 36, 45], "prepare_hpo_terms_of_interest": [5, 7], "prepare_predicates_for_terms_of_interest": [5, 7, 23, 26, 40], "preprocess": [0, 15, 23, 30, 34, 40], "preprocessingvalidationresult": [0, 17, 34], "preproprotein": 15, "prerequisit": 37, "presenc": [1, 3, 6, 7, 15, 23, 26, 27, 30, 34, 35, 36, 39, 40, 45], "present": [1, 3, 7, 8, 15, 16, 19, 23, 26, 27, 30, 37, 38, 44], "present_diseas": 15, "present_phenotyp": 15, "present_phenotype_categor": 7, "present_phenotype_categori": 7, "pressur": 31, "pretti": 19, "prevent": [2, 3, 45], "previou": [35, 44], "previous": 26, "primari": [15, 31, 45], "principl": 29, "print": [15, 17, 34], "pro139glnfster11": 23, "pro14thr": [23, 30], "pro85thr": 23, "probabl": [26, 35], "problem": 35, "proce": 17, "procedur": [23, 26, 31, 33], "process": [17, 19, 23, 26, 30, 34, 40], "process_respons": 17, "produc": [1, 2, 4, 5, 7, 8, 30], "product": 19, "profound": 37, "programmat": [6, 17], "programmaticali": 34, "project": 15, "prolifer": 31, "prong": [26, 41], "pronounc": 21, "propagatingphenotypepred": 7, "properti": [1, 2, 3, 4, 5, 7, 8, 10, 15, 16, 17, 19], "proport": 35, "protcachingmetadataservic": [0, 17], "protein": [6, 15, 16, 17, 19, 21, 31, 33, 45], "protein_altering_vari": 15, "protein_cach": 17, "protein_effect_coordin": 15, "protein_effect_end": 15, "protein_effect_loc": 15, "protein_effect_start": 15, "protein_featur": [6, 15, 34], "protein_feature_end": 19, "protein_feature_nam": 19, "protein_feature_start": 19, "protein_feature_typ": [6, 19], "protein_id": [15, 17, 19, 34], "protein_length": [15, 19, 34], "protein_meta": [15, 19, 23, 30, 34], "protein_metadata": [6, 19, 30], "protein_sourc": 17, "proteinannotationcach": [0, 17], "proteinfeatur": [0, 15], "proteinmetadata": [0, 6, 15, 17, 19, 23, 34], "proteinmetadataservic": [0, 17, 34], "proteinpred": 41, "proteinvariantview": [0, 19, 30], "proteinvisu": [0, 19, 23, 30, 34], "proteinvisualiz": [0, 19, 34], "provid": [1, 2, 3, 6, 7, 8, 10, 11, 12, 15, 16, 17, 19, 21, 23, 24, 27, 30, 33, 35, 37, 40, 41, 44], "proxi": 37, "pscore": [1, 25, 27, 37], "pt_id": 30, "publish": [22, 40], "pubm": 29, "pulmonari": 31, "pupillari": 31, "purin": 31, "purpos": [2, 25, 26, 28, 30, 34, 35, 45], "put": [15, 23, 25, 26, 27, 28], "putamen": 35, "pval": [1, 3, 8, 10, 25, 27, 28], "pval_kind": [1, 3], "pvalu": 27, "pvi": [19, 34], "px": 30, "px_id": 23, "py": 15, "pydoc": 34, "pypi": 22, "pyplot": [23, 27, 28, 30, 34], "pyrimidin": 31, "pytest": 22, "python": [4, 14, 21, 22, 26, 30, 34, 35, 45], "python3": 22, "q": [23, 34], "q1": 27, "q3": 27, "q99593": 34, "qc_result": 34, "qual": [15, 32], "qualnam": [15, 16], "quartil": 27, "queri": [7, 8, 15, 17, 27, 34, 40], "question": [6, 21, 24, 45], "r": 27, "radiu": [23, 26, 30], "rais": [5, 14, 15, 16, 17], "random": [4, 15], "random_se": 19, "rang": [2, 15, 17, 27, 37], "rank": [9, 12, 27, 28, 30, 42], "rare": [0, 2, 23, 34, 40], "rate": [23, 31, 35], "rather": 31, "ratio": 31, "re": 15, "reach": 17, "read": [18, 19, 21, 45], "readabl": [15, 19], "reader": 34, "readi": [15, 23], "readili": 34, "real": [25, 26], "realiz": 35, "realli": 34, "reason": [2, 23, 26, 31, 34], "receiv": 23, "recent": 35, "receptor": 34, "recess": 44, "recommend": [2, 6, 15, 21, 23, 26, 30, 34, 35, 40], "record": [15, 23, 30, 40], "red": [27, 31], "redox": 31, "reduc": [2, 23, 34, 35], "redund": 35, "ref": [6, 15, 19, 32], "ref_length": [6, 27], "refer": [6, 15, 21, 27, 31, 33, 34, 37], "reflect": 41, "reflex": 31, "refract": 31, "refseq": [15, 16, 17, 34], "refseq_nam": 16, "regard": [2, 10, 15, 19], "regardless": 15, "region": [6, 15, 16, 19, 23, 30, 32, 34, 45], "registri": [23, 34, 40], "regul": [30, 31], "regulatory_region_abl": 15, "regulatory_region_amplif": 15, "regulatory_region_vari": 15, "rel": [6, 37], "relat": 35, "relationship": [21, 26], "releas": [23, 26, 27, 28, 30, 31, 34, 35, 37, 40], "relev": [2, 15, 23, 27, 34], "remot": [17, 34], "remov": [6, 31, 32, 45], "renal": [27, 28], "renin": 31, "repair": 31, "repeat": 15, "replac": 45, "report": [1, 3, 8, 10, 15, 17, 19, 21, 23, 25, 26, 27, 28, 30, 40], "repositori": 22, "repres": [1, 2, 3, 5, 6, 7, 8, 10, 15, 16, 17, 19, 21, 27, 34, 35], "represent": [15, 17], "reproduct": 31, "request": 17, "requir": [1, 4, 10, 15, 22, 23, 35, 41], "requisit": 34, "rere": [27, 34, 45], "rere_mane_tx_id": 45, "residu": [6, 30, 34], "resolut": 15, "resourc": [6, 15, 17, 34], "respect": [3, 10, 15, 26, 32, 33, 34, 44, 45], "respir": 31, "respiratori": 31, "respons": [17, 27, 31, 34], "rest": [15, 17, 25, 31], "restrict": 29, "result": [1, 2, 3, 8, 10, 15, 17, 19, 21, 23, 25, 26, 27, 28, 30, 31, 34, 35, 40, 41, 45], "retain": 35, "retainin": 23, "reticulocyt": 31, "retriev": [15, 16, 17], "return": [2, 3, 4, 5, 6, 7, 8, 11, 14, 15, 16, 17, 18, 19, 35, 41], "reus": 44, "revers": 16, "right": [16, 19], "risk": 26, "rna": 16, "root": [2, 31, 35], "row": [1, 2, 3, 23], "rule": [5, 11, 23, 26, 30, 33, 40, 45], "run": [17, 25, 27, 28, 34, 35], "runner": 17, "runonlin": 22, "rust": 15, "sai": 35, "salient": [19, 30], "salivari": 31, "same": [2, 3, 6, 12, 15, 16, 23, 26, 27, 31, 32, 34, 35, 37, 44], "same_count_as_the_only_child": 2, "sampl": [12, 15, 23], "sample_id": 15, "samplelabel": [0, 15], "sapien": 6, "save": 34, "savefig": 34, "scalp": 31, "scenario": 5, "schema": [15, 17, 19, 26, 34], "scienc": 6, "scientif": 30, "scipi": [4, 9, 12, 26, 27], "scipyfisherexact": 3, "sclera": 31, "score": [1, 8, 9, 12, 24, 30, 33, 42], "score_analysi": [25, 27], "score_statist": [8, 25, 27], "scorer": [8, 27], "screenshot": 34, "search": [17, 23, 31, 34, 41], "sebac": 31, "second": [6, 17, 30], "secondari": 15, "secret": 31, "section": [2, 3, 6, 7, 8, 15, 17, 23, 25, 26, 27, 28, 30, 35, 44, 45], "secundum": [23, 26, 30], "sediment": 31, "see": [2, 3, 6, 7, 8, 9, 10, 15, 19, 23, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 41, 44, 45], "seek": 39, "seem": 41, "seen": [15, 23, 27, 30, 35], "segment": [15, 31, 40], "segreg": 31, "seizur": [23, 32], "select": [2, 6, 10, 27], "self": [14, 16], "sens": [30, 31, 35], "sensat": 31, "sensibl": 30, "sensori": 31, "sensorineur": 27, "separ": [14, 26, 42], "septal": [23, 26, 30, 32], "septum": [23, 26, 32], "sequenc": [1, 2, 3, 4, 5, 6, 7, 9, 12, 15, 16, 17, 19, 33, 34], "sequence_vari": 15, "ser196ter": 23, "ser261ci": [23, 30], "ser36thrfster25": [23, 30], "serial": [25, 26, 27, 28, 45], "serializ": 14, "serum": [8, 15, 25, 27, 31], "serv": 41, "servic": 17, "set": [2, 8, 13, 15, 23, 26, 27, 28, 35, 36, 40, 44], "setup": [23, 26, 30, 35], "sever": [3, 5, 15, 23, 25, 26, 27, 30, 32, 34, 35, 37, 42, 44, 45], "sex": [0, 6, 7, 8, 15, 23, 30, 31, 33, 39], "sex_pred": [5, 6, 43], "sh": 35, "sharpei": 31, "shelf": [27, 41, 45], "shift": 45, "ship": 34, "short": [15, 23, 26, 30, 37], "shortcut": 15, "shorter": [6, 26], "should": [2, 3, 6, 7, 13, 15, 16, 17, 19, 23, 25, 27, 34], "show": [15, 19, 25, 26, 27, 28, 30, 31, 32, 34, 35, 40, 41, 45], "shown": [23, 30, 33, 34], "sidak": 35, "side": [4, 12, 27], "sign": [15, 16, 23, 25, 26, 27], "signal": [31, 35], "signific": [1, 3, 15, 26, 27, 31, 35, 37], "significant_phenotype_indic": [1, 3], "significantli": [23, 26, 27], "sime": 35, "similar": [15, 27, 44], "similarli": [10, 40, 44], "simpl": [6, 22, 29, 32, 34, 37, 45], "simplest": 35, "simpli": [2, 35], "simplifi": [23, 26], "sinc": [3, 6, 15, 27], "sine": 15, "singl": [1, 2, 15, 23, 36, 45], "situ": 31, "size": [2, 15, 16, 30, 31], "skelet": 31, "skeleton": [23, 26], "skin": [8, 31], "skinfold": 31, "skip": [2, 23, 26, 31], "skipkei": 14, "skipping_general_term": 2, "skipping_non_phenotype_term": 2, "skipping_since_one_genotype_had_zero_observ": 2, "skull": 31, "slice": 16, "small": [32, 35, 37], "smell": 31, "snv": [15, 32, 45], "so": [6, 15, 27, 34, 35, 45], "so_term": 15, "softwar": 24, "solut": 34, "somat": 31, "some": [1, 4, 17, 21, 22, 30, 34, 35, 36, 41], "some_cell_has_greater_than_one_count": 2, "sometim": [36, 44, 45], "sort": [15, 17], "sort_index": [25, 27, 28], "sort_kei": 14, "sound": [31, 40], "sourc": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 22, 45], "span": [6, 15, 16, 31, 32, 34], "specif": [3, 6, 15, 17, 21, 23, 27, 28, 30, 31, 34, 35, 40], "specifi": 2, "specified_term": 35, "specifiedtermsmtcfilt": [1, 2, 35], "spell": 32, "spinal": 31, "spleen": 31, "splice": [15, 23], "splice_acceptor_vari": [15, 17, 23, 30], "splice_donor_5th_base_vari": [15, 17, 23, 30], "splice_donor_region_vari": 15, "splice_donor_vari": [15, 17, 23, 30], "splice_polypyrimidine_tract_vari": [15, 17], "splice_region_vari": [15, 23, 30], "spuriou": 35, "st1": 2, "stabil": 31, "stage": [15, 28], "stalk": 31, "standalon": 19, "standard": [15, 33], "start": [6, 15, 16, 17, 19, 27, 30, 31, 34, 44], "start_lost": [15, 27], "start_on_strand": 16, "start_retained_vari": 15, "stat": [3, 8, 10, 23, 25, 26, 27, 28, 35], "state": [15, 32], "static": [2, 6, 8, 14, 15, 17, 35], "statist": [1, 3, 4, 8, 9, 10, 12, 21, 23, 31, 33, 35, 37, 41], "statsmodel": 35, "statu": [0, 2, 11, 15], "statur": 37, "stdout": 17, "step": [22, 23, 26, 33, 34, 39], "stimul": 31, "stomatocytosi": 34, "stool": 31, "stop": [23, 31], "stop_gain": [6, 15, 23, 27, 30, 45], "stop_lost": 15, "stop_retained_vari": [15, 23, 30], "storag": 17, "store": [1, 8, 15, 17, 19, 23, 26, 27, 28, 30, 34, 35, 37, 40], "store_annot": 17, "str": [1, 2, 3, 4, 5, 6, 7, 8, 9, 11, 12, 13, 15, 16, 17, 18, 19, 32, 34], "strabismu": 26, "strand": [6, 15, 16, 34], "strategi": [2, 19, 26, 31], "stress": 31, "strict": 17, "string": [8, 15, 17, 19, 31], "stringio": 17, "stromal": 31, "strongli": [6, 15], "structur": [6, 10, 15, 26, 27, 30, 31, 32, 35, 37, 45], "structural_defect": 27, "structural_so_id_to_displai": 15, "structural_typ": [6, 15, 45], "structural_vari": 6, "student": 15, "studi": [11, 21, 28], "stump": 31, "sub": [15, 34], "subclass": [6, 14], "subgroup": 15, "subject": [15, 27, 34, 40], "submodul": 20, "subpackag": 20, "subplot": [23, 27, 28, 30, 34], "subsect": 15, "subsequ": [26, 34], "subunit": 31, "successfulli": [23, 30], "suffix": [17, 34], "suggest": 30, "suitabl": 15, "sum": [27, 37, 44], "sum_": 44, "summar": [5, 15, 17, 19, 32, 34], "summari": [5, 17, 33, 34], "summarize_group": [5, 6], "summarize_hpo_analysi": [0, 19, 23, 26], "summary_df": [23, 26], "suox": 29, "super": 14, "supercoil": 15, "suppli": 15, "support": [6, 14, 15, 16, 21, 29, 45], "supports_shap": 4, "suppos": 14, "suppresor": 15, "surf1": [6, 15], "surf2": 6, "surfac": 31, "surviv": [1, 10, 11, 12, 24, 33, 35, 36, 42], "survival_analysi": 28, "survival_statist": 28, "survivalanalysi": [1, 10, 28], "survivalanalysisresult": [1, 10], "survivalmetr": 12, "survivalstatist": [10, 12], "sv": [6, 15, 17, 25], "sv_delet": 32, "sv_info": 15, "svart": 16, "svlen": [15, 32], "svtype": [15, 32], "sweat": 31, "switch": 22, "symbol": [6, 15, 16, 23, 32, 34, 36], "symptom": [15, 23, 25, 26, 27, 31], "synapt": 31, "syndrom": [15, 23, 30, 38, 45], "synonym": 45, "synonymous_vari": [15, 45], "system": [15, 16, 31, 32, 35, 37], "t": [9, 15, 17, 19, 23, 25, 30, 32], "tabl": [4, 19, 23, 26, 30, 31, 32, 33, 35, 44], "tail": 26, "take": [4, 6, 8, 17, 23, 26, 34, 35, 36, 38, 40], "tall": 37, "tandem": 15, "target": [6, 7, 11, 30, 34, 36, 38, 45], "tast": 31, "taxon": 6, "tbx5": [30, 34, 40], "tbx5_gpsea_with_uniprot_domain": 34, "technic": 21, "tediou": [40, 45], "tedium": 40, "temperatur": 31, "templat": 19, "tempor": [1, 15, 28], "ten": [15, 35], "tend": 15, "term": [1, 2, 3, 7, 8, 11, 15, 17, 19, 21, 23, 25, 26, 27, 28, 30, 32, 33, 37, 40, 41], "term_frequency_threshold": [2, 26, 35], "term_id": [8, 11, 15, 25, 28], "term_id_to_ag": 17, "term_onset_pars": 17, "termid": [2, 3, 6, 7, 8, 11, 15, 40], "termin": [15, 21], "terms_to_test": [2, 35], "test": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 15, 16, 17, 19, 21, 23, 24, 29, 31, 33, 37, 39, 40, 41, 42, 45], "test_nam": 15, "test_result": 15, "test_term_id": 15, "test_uniprot_json": 15, "testabl": 30, "testosteron": [8, 15, 25, 27], "text": 18, "textio": [5, 17, 18], "textiowrapp": [17, 18], "tf_binding_site_vari": 15, "tfbs_ablat": 15, "tfbs_amplif": 15, "th": 3, "than": [1, 2, 3, 6, 15, 23, 26, 27, 31], "thank": 26, "thei": [16, 21, 24, 26, 27, 31, 35, 45], "them": 30, "themselv": 16, "therebi": 2, "therefor": [2, 3, 6, 31, 35, 45], "thi": [1, 2, 3, 6, 7, 8, 11, 14, 15, 16, 17, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 34, 35, 36, 37, 39, 40, 43, 44, 45], "thick": 31, "thin": 4, "thing": 30, "think": 35, "third": 27, "thorac": 31, "those": [36, 44], "thr161pro": 23, "thr223met": [23, 30], "thr72ly": 23, "three": [6, 15, 29, 35, 44], "three_prime_utr_vari": [15, 17], "threshold": [2, 6, 23, 26, 35], "thrombocyt": 31, "thrombosi": 31, "through": 34, "thu": [1, 3, 15, 30, 35, 37], "thumb": [5, 23, 26, 30, 45], "thymu": 31, "thyroid": 31, "tick": 28, "ticker": 28, "tight_layout": 34, "tild": 45, "time": [3, 11, 15, 17, 22, 23, 28, 30, 34, 35], "timelin": [0, 11, 15], "timeout": 17, "tissu": 31, "to_displai": 15, "to_negative_strand": 16, "to_opposite_strand": 16, "to_positive_strand": 16, "to_str": 15, "todo": [19, 25, 29, 34, 39, 41, 42], "togeth": [15, 23, 25, 26, 27, 28], "tonsil": 31, "too": 31, "toolkit": [8, 17, 23, 34, 37], "top": [3, 7, 8, 15, 23, 27, 30, 31, 34], "top_phenotype_count": 19, "top_variant_count": 19, "total": [1, 3, 15, 23, 26, 27, 30, 35, 37], "total_patient_count": 15, "total_test": [1, 3, 23, 26], "traceback": 35, "track": 7, "tracker": [21, 41], "tract": 31, "trans_id": 15, "transcript": [1, 3, 6, 15, 17, 19, 23, 25, 26, 27, 28, 30, 33, 44, 45], "transcript_abl": [15, 27], "transcript_amplif": 15, "transcript_coordin": 19, "transcript_id": [6, 15, 19, 23, 30], "transcriptannot": [0, 15, 17], "transcriptcoordin": [0, 15, 17, 19, 23, 34], "transcriptcoordinateservic": [0, 17], "transcriptinfoawar": [0, 15, 17], "transform": [17, 34], "transit": 16, "translat": 15, "transloc": [6, 15], "transmiss": 31, "transpos": [15, 16], "transpose_coordin": [15, 16], "trascript": 23, "tri": 17, "triphalang": [23, 26, 30], "triphosph": 31, "trp121gly": [23, 30], "true": [2, 6, 7, 10, 14, 15, 16, 17, 19, 23, 26, 28, 30, 33, 34, 35, 40, 45], "truli": 30, "truncat": 23, "try": [13, 14, 16, 17], "ttest_ind": 9, "tteststatist": [8, 9, 25], "tupl": [3, 6, 8, 15, 17, 23, 34, 35, 36, 40], "turn": [17, 34], "tutori": [21, 26, 33], "twice": 35, "two": [1, 3, 4, 6, 8, 12, 15, 16, 26, 27, 29, 30, 34, 35, 36, 37, 38, 39, 41, 44], "tx": [17, 19, 45], "tx_annot": 15, "tx_coordin": [19, 23, 30, 34], "tx_id": [6, 15, 17, 19, 23, 25, 26, 27, 28, 30, 44, 45], "tx_servic": 30, "txc_servic": [23, 34], "type": [1, 2, 3, 6, 7, 8, 14, 15, 16, 17, 19, 21, 33, 34, 35, 45], "typeerror": [14, 35], "typic": [3, 15, 26, 39, 41], "tyr136ter": [23, 30], "tyr291ter": [23, 30], "tyr342thrfster52": [23, 30], "tyr407ter": [23, 34], "u": [8, 9, 23, 24, 26, 30, 33, 34, 37, 44, 45], "ucsc": 16, "ucsc_nam": 16, "ucum": 15, "umbil": 31, "umbilicu": 31, "umod": 28, "unambigu": 38, "unavail": 15, "under": [17, 23, 34, 35], "underli": 45, "undoubtedli": 34, "uniform": 6, "uninterest": 31, "uniprot": [15, 17, 30], "uniprot_json": [15, 34], "uniprotproteinmetadataservic": [0, 15, 17], "uniqu": [2, 3, 15, 23, 30], "unit": [15, 16, 22, 30], "unknown": [6, 15, 23, 30], "unknown_sex": [15, 43], "unless": [7, 23, 34, 35, 40], "unlik": [31, 35], "unnecessari": 31, "unsur": 30, "until": [11, 28], "untransl": [15, 34], "up": [23, 27, 35, 37, 40], "upper": [23, 26, 31], "upstream": 16, "upstream_gene_vari": [15, 17], "urat": 31, "uri": 15, "urin": 31, "urinari": 31, "urobilinogen": 31, "us": [1, 2, 3, 6, 7, 8, 10, 11, 13, 14, 15, 16, 17, 18, 19, 21, 23, 25, 26, 27, 28, 30, 32, 34, 35, 36, 39, 40, 41, 44, 45], "usabl": [1, 3], "usag": [6, 7, 9, 19, 45], "use_al": 35, "usealltermsmtcfilt": [1, 2, 35], "user": [15, 19, 21, 23, 30, 31, 34], "usual": [6, 15, 26, 31, 41], "utf": [17, 18], "util": [0, 6, 26], "utr": [15, 34], "uvea": 31, "v": [21, 25, 27, 28, 35], "v2024": [23, 26, 27, 28, 30, 34, 35, 37, 40], "vagin": 31, "val": 2, "val153serfster21": 23, "val214glyfster12": 23, "val263met": [23, 30], "val267trpfster127": [23, 30], "valid": [17, 19, 23, 30, 35], "validation_polici": 17, "validation_runn": 17, "validationrunn": 17, "valu": [1, 2, 3, 4, 8, 9, 10, 12, 15, 16, 17, 19, 23, 24, 26, 27, 28, 33, 35], "valueerror": [5, 15, 16, 17], "valv": 31, "varcachingfunctionalannot": [0, 17], "vari": [6, 26], "variabl": [4, 7, 8, 13, 15, 26, 30, 39], "variable_nam": [7, 8], "variant": [0, 1, 3, 4, 6, 15, 17, 19, 21, 25, 26, 27, 28, 32, 33, 35, 36, 39, 41], "variant_class": [6, 15, 45], "variant_coordin": [15, 17], "variant_effect": [6, 15, 19, 23, 25, 26, 27, 44, 45], "variant_effect_count_by_tx": 15, "variant_fallback": 17, "variant_info": 15, "variant_kei": [6, 15, 17], "variant_key_of_interest": 45, "variant_loc": 19, "variant_locations_counted_absolut": 19, "variantannotationcach": [0, 17], "variantclass": [0, 6, 15, 45], "variantcoordin": [0, 15, 17, 32], "variantcoordinatefind": [0, 17], "varianteffect": [0, 6, 15, 17, 19, 23, 25, 26, 27, 44, 45], "variantformatt": [0, 19], "variantinfo": [0, 15], "variantinfoawar": [0, 15], "variantpred": [5, 6, 23, 25, 26, 27, 28, 36, 39, 41, 44, 45], "varianttranscriptproteinartist": 19, "varianttranscriptvisu": [0, 19], "variou": 16, "vascular": 31, "vasculatur": 31, "vc": [15, 17], "vcf": 15, "vcv000522858": 45, "ventricular": [23, 26, 30, 31, 32], "vep": 17, "vepfunctionalannot": [0, 17], "veri": [2, 44], "verify_term_id": 2, "version": [4, 23, 26, 27, 37, 40], "versu": 28, "vessel": 31, "via": [7, 14, 17, 19, 34], "view": [0, 21, 23, 26, 30, 34], "viewer": [23, 30], "virtual": 22, "vision": 31, "visual": [19, 23, 27, 30, 31, 34], "vital": [11, 15], "vital_statu": 15, "vitalstatu": [0, 15], "vitamin": 31, "voic": 31, "vol": 15, "volum": [8, 15, 25, 27, 31], "vri": [8, 33, 42], "vvhgvsvariantcoordinatefind": [0, 17], "vvmulticoordinateservic": [0, 17, 23, 30, 34], "w": [15, 17], "wa": [1, 2, 3, 5, 7, 15, 17, 19, 23, 25, 26, 27, 28, 30, 35, 37, 40, 45], "wai": [23, 24, 30, 34], "waist": 31, "wall": 31, "want": [2, 8, 26, 27, 34, 35, 36, 44, 45], "warn": [17, 23, 34], "we": [2, 3, 6, 8, 11, 15, 17, 18, 19, 21, 22, 23, 25, 26, 27, 28, 30, 31, 34, 35, 36, 37, 38, 39, 40, 41, 43, 44, 45], "websit": 34, "week": 15, "weight": 31, "well": [6, 7, 15, 30, 34, 38], "were": [1, 3, 17, 19, 23, 26, 27, 30, 34, 40], "what": [26, 39], "whatsoev": 6, "when": [2, 7, 15, 28, 34, 35, 40], "where": [1, 2, 3, 15, 17, 23, 37, 44], "wherea": 30, "whether": [7, 8, 15, 21, 26, 30], "which": [1, 2, 4, 5, 7, 15, 23, 30, 33, 34, 37, 44, 45], "while": [4, 15, 26, 29, 36, 41, 44], "whisker": 27, "whitnei": [8, 9, 24, 30, 33, 37, 42], "who": [7, 23, 27, 29, 44], "whose": [15, 23, 26, 27, 40], "why": 2, "widespread": 30, "wikipedia": 30, "wilcoxon": 27, "wise": [23, 35], "with_cache_fold": 17, "with_strand": 16, "within": [15, 23, 26, 27, 30], "without": [6, 11, 26, 30], "word": [21, 31], "wordsmith": 25, "work": [2, 13, 17, 34], "workflow": 30, "worth": 2, "would": [2, 8, 15, 21, 26, 27, 29, 30, 35, 37, 45], "wrap": [8, 15, 26, 34, 45], "wrap_scoring_funct": 8, "wrapper": [4, 9, 12, 18], "write": [17, 18, 19], "written": 19, "wwox": 40, "x": [27, 28], "x_1000001_1000027_": 15, "x_1000001_1000027_taaaaaaaaaaaaaaaaaaaaaaaaaa_t": 15, "x_12345_12345_c_g": [6, 15], "xaxi": 28, "xlabel": 28, "xm_": 17, "xu": 25, "y": [15, 27, 28], "ye": [1, 3, 7, 40], "year": [15, 17, 28], "yet": 15, "yield": 35, "ylabel": [27, 28], "ylim": 27, "you": [14, 15, 16, 30, 34, 35], "your": [16, 22, 34], "zero": [2, 6, 16, 32, 36, 37], "zero_vs_on": 6, "zero_vs_one_vs_two": 6, "\u03b1": 15, "\u03c72": 4}, "titles": ["gpsea package", "gpsea.analysis package", "gpsea.analysis.mtc_filter package", "gpsea.analysis.pcats package", "gpsea.analysis.pcats.stats package", "gpsea.analysis.predicate package", "gpsea.analysis.predicate.genotype package", "gpsea.analysis.predicate.phenotype package", "gpsea.analysis.pscore package", "gpsea.analysis.pscore.stats package", "gpsea.analysis.temporal package", "gpsea.analysis.temporal.endpoint package", "gpsea.analysis.temporal.stats package", "gpsea.config module", "gpsea.io module", "gpsea.model package", "gpsea.model.genome package", "gpsea.preprocessing package", "gpsea.util module", "gpsea.view package", "API reference", "GPSEA", "Installation", "Tutorial", "Statistical analyses", "Compare measurement values", "Compare genotype and phenotype groups", "Compare phenotype scores in genotype groups", "Survival analysis", "Genotype-Phenotype Correlations in Autosomal Recessive Diseases", "Cohort exploratory analysis", "General HPO terms", "Glossary", "User guide", "Input data", "Multiple-testing correction", "Group by allele count", "De Vries Score", "Group by diagnosis", "Genotype Predicates", "HPO predicate", "Predicates", "Phenotype Predicates", "Group by sex", "Group by variant category", "Variant Predicates"], "titleterms": {"2x2": 35, "2x3": 35, "The": [23, 37], "abnorm": [35, 37], "across": 30, "all": [23, 35, 40], "allel": [23, 32, 36], "altern": 34, "an": 32, "analys": 24, "analysi": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 23, 25, 26, 27, 28, 30, 35], "api": [20, 34], "ar": 35, "associ": 26, "autosom": 29, "background": 35, "biallel": [36, 44], "block": 45, "build": 45, "categori": 44, "chang": 32, "child": 35, "choos": [34, 35], "code": 37, "cohort": [23, 25, 26, 27, 28, 30, 34, 35, 40, 45], "compar": [25, 26, 27, 36], "complex": 45, "condit": 45, "config": 13, "configur": [25, 26, 27, 28, 34], "congenit": 37, "content": [24, 33, 39, 41, 42], "control": 34, "coordin": 34, "correct": [26, 35], "correl": 29, "count": [35, 36], "creat": 34, "creator": 34, "curv": 28, "data": [28, 34], "de": 37, "delai": 37, "descend": 35, "development": 37, "diagnosi": 38, "diseas": 29, "distribut": [23, 30, 34], "domain": 30, "dump": 34, "dysmorph": 37, "egfr": 36, "endpoint": [11, 28], "enter": 34, "exact": 26, "exampl": [25, 26, 27, 28, 34, 36, 40, 44], "exclud": 35, "explor": [23, 30], "exploratori": 30, "facial": 37, "featur": [34, 37], "feedback": 21, "fet": 26, "fetch": 34, "filter": 35, "final": [25, 26, 27, 28, 37], "fisher": 26, "frameshift": [23, 26], "from": 34, "ga4gh": 34, "galleri": 41, "gener": [31, 35], "genom": 16, "genotyp": [6, 23, 25, 26, 27, 28, 29, 34, 35, 39, 44], "get": 34, "glossari": 32, "gpsea": [0, 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 21, 35], "group": [26, 27, 35, 36, 38, 43, 44], "growth": 37, "guid": 33, "ha": 35, "hmf01": 35, "hmf02": 35, "hmf03": 35, "hmf05": 35, "hmf06": 35, "hmf07": 35, "hmf08": 35, "hmf09": 35, "hpo": [23, 27, 31, 35, 40], "ident": 35, "implement": 35, "individu": 36, "input": 34, "instal": 22, "interact": 30, "interest": 34, "invert": 45, "io": 14, "json": 34, "kaplan": 28, "later": 34, "latest": 22, "length": 32, "level": 35, "literatur": 21, "load": [23, 25, 26, 27, 28, 34, 45], "mann": 27, "manual": 34, "measur": 25, "meier": 28, "missens": 23, "missing_implies_phenotype_exclud": 40, "model": [15, 16], "modul": [13, 14, 18], "monoallel": [36, 44], "more": [35, 41], "mtc": 35, "mtc_filter": 2, "multipl": [26, 35], "mutat": 36, "need": 41, "neither": 35, "non": 37, "nor": 35, "observ": 35, "occur": 35, "one": 35, "onset": 37, "packag": [0, 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 15, 16, 17, 19], "pars": 34, "partit": 44, "path": 32, "pcat": [3, 4], "persist": 34, "phenopacket": 34, "phenotyp": [7, 23, 25, 26, 27, 29, 34, 35, 40, 42], "plot": [23, 30, 34], "postnat": 37, "power": 30, "predic": [5, 6, 7, 23, 25, 26, 27, 28, 39, 40, 41, 42, 44, 45], "prenat": 37, "prepar": 23, "preprocess": 17, "procedur": 35, "protein": [23, 30, 34], "provid": 34, "pscore": [8, 9], "qualiti": 34, "rare": 35, "raw": 28, "recess": 29, "refer": [20, 32], "releas": 22, "respect": [23, 30], "rest": [26, 34], "retard": 37, "rule": 32, "run": 22, "score": [25, 27, 37], "scorer": 37, "section": 37, "sequenc": [23, 30], "sex": 43, "shape": 4, "show": 23, "showcas": 34, "skip": 35, "sourc": 34, "specifi": 35, "stabl": 22, "standard": 34, "stat": [4, 9, 12], "statist": [24, 25, 26, 27, 28, 30], "strategi": 35, "submodul": 0, "subpackag": [0, 1, 3, 5, 8, 10, 15], "summar": 23, "summari": [23, 30], "support": 4, "surviv": 28, "tbx5": [23, 26], "tempor": [10, 11, 12], "term": [31, 35], "test": [22, 25, 26, 27, 28, 30, 35], "than": 35, "transcript": 34, "true": 32, "tutori": [23, 29], "type": 30, "u": 27, "underpow": 35, "uniprot": 34, "us": 37, "user": 33, "util": 18, "v": [23, 26], "valid": 34, "valu": 25, "variant": [23, 30, 34, 44, 45], "veri": 35, "view": 19, "vri": 37, "which": 35, "whitnei": 27}})
\ No newline at end of file
+Search.setIndex({"alltitles": {"API reference": [[20, null]], "Alternative phenopacket sources": [[34, "alternative-phenopacket-sources"]], "Analysis": [[25, "analysis"], [26, "analysis"], [27, "analysis"], [28, "analysis"]], "Background": [[35, "background"]], "Biallelic predicate": [[44, "biallelic-predicate"]], "Biallelic predicate genotype groups": [[44, "id8"]], "Building blocks": [[45, "building-blocks"]], "Categories": [[44, "categories"]], "Change length of an allele": [[32, "change-length-of-an-allele"]], "Choose the transcript": [[34, "choose-the-transcript"]], "Choose the transcript and protein of interest": [[34, "choose-the-transcript-and-protein-of-interest"]], "Cohort exploratory analysis": [[30, null]], "Cohort summary": [[30, "cohort-summary"]], "Compare genotype and phenotype groups": [[26, null]], "Compare measurement values": [[25, null]], "Compare phenotype scores in genotype groups": [[27, null]], "Compare the individuals with EGFR mutation": [[36, "compare-the-individuals-with-egfr-mutation"]], "Compare the individuals with monoallelic and biallelic mutations": [[36, "compare-the-individuals-with-monoallelic-and-biallelic-mutations"]], "Complex conditions": [[45, "complex-conditions"]], "Configure a cohort creator": [[34, "configure-a-cohort-creator"]], "Configure analysis": [[25, "configure-analysis"], [26, "configure-analysis"], [27, "configure-analysis"], [28, "configure-analysis"]], "Contents:": [[24, null], [33, null], [39, null], [41, null], [42, null]], "Create a cohort from GA4GH phenopackets": [[34, "create-a-cohort-from-ga4gh-phenopackets"]], "Custom analysis": [[26, "custom-analysis"]], "De Vries Score": [[37, null]], "Default analysis": [[26, "default-analysis"]], "Developmental delay": [[37, "developmental-delay"]], "Distribution of variants across protein domains": [[30, "distribution-of-variants-across-protein-domains"]], "Enter features manually": [[34, "enter-features-manually"]], "Example": [[34, "example"], [34, "id4"], [40, "example"], [44, "example"], [44, "id5"], [44, "id6"]], "Example analysis": [[25, "example-analysis"], [26, "example-analysis"], [27, "example-analysis"], [28, "example-analysis"]], "Examples": [[36, "examples"]], "Exploration": [[30, "exploration"]], "Explore cohort": [[23, "explore-cohort"]], "Facial dysmorphic features": [[37, "facial-dysmorphic-features"]], "Feedback": [[21, "feedback"]], "Fetch data from UniProt REST API": [[34, "fetch-data-from-uniprot-rest-api"]], "Fetch protein data": [[34, "fetch-protein-data"]], "Fetch transcript coordinates from Variant Validator REST API": [[34, "fetch-transcript-coordinates-from-variant-validator-rest-api"]], "Final analysis": [[25, "final-analysis"], [27, "final-analysis"], [28, "final-analysis"]], "Final score": [[37, "final-score"]], "Fisher exact test (FET)": [[26, "fisher-exact-test-fet"]], "GPSEA": [[21, null]], "Gallery": [[41, "gallery"]], "General HPO terms": [[31, null]], "Genotype Predicates": [[39, null]], "Genotype phenotype associations": [[26, "genotype-phenotype-associations"]], "Genotype predicate": [[25, "genotype-predicate"], [26, "genotype-predicate"], [27, "genotype-predicate"], [28, "genotype-predicate"]], "Genotype-Phenotype Correlations in Autosomal Recessive Diseases": [[29, null]], "Get the transcript data": [[34, "get-the-transcript-data"]], "Glossary": [[32, null]], "Group by allele count": [[36, null]], "Group by diagnosis": [[38, null]], "Group by sex": [[43, null]], "Group by variant category": [[44, null]], "HMF01 - Skip terms that occur very rarely": [[35, "hmf01-skip-terms-that-occur-very-rarely"]], "HMF02 - Skip terms if no genotype group has more than one count": [[35, "hmf02-skip-terms-if-no-genotype-group-has-more-than-one-count"]], "HMF03 - Skip terms if all counts are identical to counts for a child term": [[35, "hmf03-skip-terms-if-all-counts-are-identical-to-counts-for-a-child-term"]], "HMF05 - Skip term if one of the genotype groups has neither observed nor excluded observations": [[35, "hmf05-skip-term-if-one-of-the-genotype-groups-has-neither-observed-nor-excluded-observations"]], "HMF06 - Skip term if underpowered for 2x2 or 2x3 analysis": [[35, "hmf06-skip-term-if-underpowered-for-2x2-or-2x3-analysis"]], "HMF07 - Skipping terms that are not descendents of Phenotypic abnormality": [[35, "hmf07-skipping-terms-that-are-not-descendents-of-phenotypic-abnormality"]], "HMF08 - Skipping \u201cgeneral\u201d level terms": [[35, "hmf08-skipping-general-level-terms"]], "HMF09 - Skipping terms that are rare on the cohort level": [[35, "hmf09-skipping-terms-that-are-rare-on-the-cohort-level"]], "HPO MT filter strategy": [[35, "hpo-mt-filter-strategy"]], "HPO predicate": [[40, null]], "Implementation in GPSEA": [[35, "implementation-in-gpsea"]], "Input data": [[34, null]], "Installation": [[22, null]], "Interactive exploration": [[30, "interactive-exploration"]], "Inverting conditions": [[45, "inverting-conditions"]], "Kaplan-Meier curves": [[28, "kaplan-meier-curves"]], "Latest release": [[22, "latest-release"]], "Length of the reference allele": [[32, "length-of-the-reference-allele"]], "Literature": [[21, "literature"]], "Load HPO": [[23, "load-hpo"], [27, "load-hpo"]], "Load cohort": [[25, "load-cohort"], [26, "load-cohort"], [27, "load-cohort"], [28, "load-cohort"], [45, "load-cohort"]], "Load phenopackets": [[34, "load-phenopackets"]], "MT filters: Choosing which terms to test": [[35, "mt-filters-choosing-which-terms-to-test"]], "Mann-Whitney U Test": [[27, "mann-whitney-u-test"]], "Monoallelic predicate": [[44, "monoallelic-predicate"]], "Monoallelic predicate genotype groups": [[44, "id7"]], "Multiple-testing correction": [[35, null]], "Multiple-testing correction procedures": [[35, "multiple-testing-correction-procedures"]], "Need more?": [[41, "need-more"]], "Non-facial dysmorphism and congenital abnormalities": [[37, "non-facial-dysmorphism-and-congenital-abnormalities"]], "Parse UniProt JSON dump": [[34, "parse-uniprot-json-dump"]], "Partitions": [[44, "partitions"]], "Persist the cohort for later": [[34, "persist-the-cohort-for-later"]], "Phenotype Predicates": [[42, null]], "Phenotype predicates": [[26, "phenotype-predicates"]], "Phenotype score": [[25, "phenotype-score"], [27, "phenotype-score"]], "Plot distribution of cohort variants on the protein": [[34, "plot-distribution-of-cohort-variants-on-the-protein"]], "Plot distribution of variants with respect to the protein sequence": [[23, "plot-distribution-of-variants-with-respect-to-the-protein-sequence"], [30, "plot-distribution-of-variants-with-respect-to-the-protein-sequence"]], "Postnatal growth abnormalities": [[37, "postnatal-growth-abnormalities"]], "Power": [[30, "power"]], "Predicates": [[41, null]], "Predicates for all cohort phenotypes": [[40, "predicates-for-all-cohort-phenotypes"]], "Prenatal-onset growth retardation": [[37, "prenatal-onset-growth-retardation"]], "Prepare cohort": [[23, "prepare-cohort"]], "Prepare genotype and phenotype predicates": [[23, "prepare-genotype-and-phenotype-predicates"]], "Provide the transcript coordinates manually": [[34, "provide-the-transcript-coordinates-manually"]], "Quality control": [[34, "quality-control"]], "Raw data": [[28, "raw-data"]], "Run tests": [[22, "run-tests"]], "Show cohort summary": [[23, "show-cohort-summary"]], "Showcase transcript data": [[34, "showcase-transcript-data"]], "Specify terms strategy": [[35, "specify-terms-strategy"]], "Stable release": [[22, "stable-release"]], "Standardize genotype and phenotype data": [[34, "standardize-genotype-and-phenotype-data"]], "Statistical analyses": [[24, null]], "Statistical analysis": [[26, "statistical-analysis"]], "Statistical test": [[25, "statistical-test"], [27, "statistical-test"], [28, "statistical-test"]], "Submodules": [[0, "submodules"]], "Subpackages": [[0, "subpackages"], [1, "subpackages"], [3, "subpackages"], [5, "subpackages"], [8, "subpackages"], [10, "subpackages"], [15, "subpackages"]], "Summarize all variant alleles": [[23, "summarize-all-variant-alleles"]], "Supports shape": [[4, "supports-shape"]], "Survival analysis": [[28, null]], "Survival endpoint": [[28, "survival-endpoint"]], "TBX5 frameshift vs missense": [[23, "id5"]], "TBX5 frameshift vs rest": [[26, "id1"]], "Test all terms": [[35, "test-all-terms"]], "The analysis": [[23, "the-analysis"]], "The sections of the score": [[37, "the-sections-of-the-score"]], "True path rule": [[32, "true-path-rule"]], "Tutorial": [[23, null], [29, "tutorial"]], "Types of statistical test": [[30, "types-of-statistical-test"]], "User guide": [[33, null]], "Using the De Vries scorer in code": [[37, "using-the-de-vries-scorer-in-code"]], "Variant Predicates": [[45, null]], "gpsea package": [[0, null]], "gpsea.analysis package": [[1, null]], "gpsea.analysis.mtc_filter package": [[2, null]], "gpsea.analysis.pcats package": [[3, null]], "gpsea.analysis.pcats.stats package": [[4, null]], "gpsea.analysis.predicate package": [[5, null]], "gpsea.analysis.predicate.genotype package": [[6, null]], "gpsea.analysis.predicate.phenotype package": [[7, null]], "gpsea.analysis.pscore package": [[8, null]], "gpsea.analysis.pscore.stats package": [[9, null]], "gpsea.analysis.temporal package": [[10, null]], "gpsea.analysis.temporal.endpoint package": [[11, null]], "gpsea.analysis.temporal.stats package": [[12, null]], "gpsea.config module": [[13, null]], "gpsea.io module": [[14, null]], "gpsea.model package": [[15, null]], "gpsea.model.genome package": [[16, null]], "gpsea.preprocessing package": [[17, null]], "gpsea.util module": [[18, null]], "gpsea.view package": [[19, null]], "missing_implies_phenotype_excluded": [[40, "missing-implies-phenotype-excluded"]]}, "docnames": ["apidocs/gpsea", "apidocs/gpsea.analysis", "apidocs/gpsea.analysis.mtc_filter", "apidocs/gpsea.analysis.pcats", "apidocs/gpsea.analysis.pcats.stats", "apidocs/gpsea.analysis.predicate", "apidocs/gpsea.analysis.predicate.genotype", "apidocs/gpsea.analysis.predicate.phenotype", "apidocs/gpsea.analysis.pscore", "apidocs/gpsea.analysis.pscore.stats", "apidocs/gpsea.analysis.temporal", "apidocs/gpsea.analysis.temporal.endpoint", "apidocs/gpsea.analysis.temporal.stats", "apidocs/gpsea.config", "apidocs/gpsea.io", "apidocs/gpsea.model", "apidocs/gpsea.model.genome", "apidocs/gpsea.preprocessing", "apidocs/gpsea.util", "apidocs/gpsea.view", "apidocs/modules", "index", "installation", "tutorial", "user-guide/analyses/index", "user-guide/analyses/measurements", "user-guide/analyses/phenotype-groups", "user-guide/analyses/phenotype-scores", "user-guide/analyses/survival", "user-guide/autosomal_recessive", "user-guide/exploratory", "user-guide/general_hpo_terms", "user-guide/glossary", "user-guide/index", "user-guide/input-data", "user-guide/mtc", "user-guide/predicates/allele_count", "user-guide/predicates/devries", "user-guide/predicates/diagnosis", "user-guide/predicates/genotype_predicates", "user-guide/predicates/hpo_predicate", "user-guide/predicates/index", "user-guide/predicates/phenotype_predicates", "user-guide/predicates/sex", "user-guide/predicates/variant_category", "user-guide/predicates/variant_predicates"], "envversion": {"sphinx": 64, "sphinx.domains.c": 3, "sphinx.domains.changeset": 1, "sphinx.domains.citation": 1, "sphinx.domains.cpp": 9, "sphinx.domains.index": 1, "sphinx.domains.javascript": 3, "sphinx.domains.math": 2, "sphinx.domains.python": 4, "sphinx.domains.rst": 2, "sphinx.domains.std": 2, "sphinx.ext.intersphinx": 1, "sphinx.ext.viewcode": 1}, "filenames": ["apidocs/gpsea.rst", "apidocs/gpsea.analysis.rst", "apidocs/gpsea.analysis.mtc_filter.rst", "apidocs/gpsea.analysis.pcats.rst", "apidocs/gpsea.analysis.pcats.stats.rst", "apidocs/gpsea.analysis.predicate.rst", "apidocs/gpsea.analysis.predicate.genotype.rst", "apidocs/gpsea.analysis.predicate.phenotype.rst", "apidocs/gpsea.analysis.pscore.rst", "apidocs/gpsea.analysis.pscore.stats.rst", "apidocs/gpsea.analysis.temporal.rst", "apidocs/gpsea.analysis.temporal.endpoint.rst", "apidocs/gpsea.analysis.temporal.stats.rst", "apidocs/gpsea.config.rst", "apidocs/gpsea.io.rst", "apidocs/gpsea.model.rst", "apidocs/gpsea.model.genome.rst", "apidocs/gpsea.preprocessing.rst", "apidocs/gpsea.util.rst", "apidocs/gpsea.view.rst", "apidocs/modules.rst", "index.rst", "installation.rst", "tutorial.rst", "user-guide/analyses/index.rst", "user-guide/analyses/measurements.rst", "user-guide/analyses/phenotype-groups.rst", "user-guide/analyses/phenotype-scores.rst", "user-guide/analyses/survival.rst", "user-guide/autosomal_recessive.rst", "user-guide/exploratory.rst", "user-guide/general_hpo_terms.rst", "user-guide/glossary.rst", "user-guide/index.rst", "user-guide/input-data.rst", "user-guide/mtc.rst", "user-guide/predicates/allele_count.rst", "user-guide/predicates/devries.rst", "user-guide/predicates/diagnosis.rst", "user-guide/predicates/genotype_predicates.rst", "user-guide/predicates/hpo_predicate.rst", "user-guide/predicates/index.rst", "user-guide/predicates/phenotype_predicates.rst", "user-guide/predicates/sex.rst", "user-guide/predicates/variant_category.rst", "user-guide/predicates/variant_predicates.rst"], "indexentries": {"age (class in gpsea.model)": [[15, "gpsea.model.Age", false]], "age (gpsea.model.patient property)": [[15, "gpsea.model.Patient.age", false]], "age_of_death (gpsea.model.vitalstatus attribute)": [[15, "gpsea.model.VitalStatus.age_of_death", false]], "alive (gpsea.model.status attribute)": [[15, "gpsea.model.Status.ALIVE", false]], "all() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.all", false]], "all_counts (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.all_counts", false]], "all_counts (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.all_counts", false]], "all_diseases() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.all_diseases", false]], "all_measurements() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.all_measurements", false]], "all_patients (gpsea.model.cohort property)": [[15, "gpsea.model.Cohort.all_patients", false]], "all_phenotypes() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.all_phenotypes", false]], "all_transcript_ids (gpsea.model.cohort property)": [[15, "gpsea.model.Cohort.all_transcript_ids", false]], "all_variant_infos() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.all_variant_infos", false]], "all_variants() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.all_variants", false]], "allele_count() (in module gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.allele_count", false]], "allelecounter (class in gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.AlleleCounter", false]], "alt (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.alt", false]], "analysisresult (class in gpsea.analysis)": [[1, "gpsea.analysis.AnalysisResult", false]], "annotate() (gpsea.preprocessing.defaultimprecisesvfunctionalannotator method)": [[17, "gpsea.preprocessing.DefaultImpreciseSvFunctionalAnnotator.annotate", false]], "annotate() (gpsea.preprocessing.functionalannotator method)": [[17, "gpsea.preprocessing.FunctionalAnnotator.annotate", false]], "annotate() (gpsea.preprocessing.imprecisesvfunctionalannotator method)": [[17, "gpsea.preprocessing.ImpreciseSvFunctionalAnnotator.annotate", false]], "annotate() (gpsea.preprocessing.protcachingmetadataservice method)": [[17, "gpsea.preprocessing.ProtCachingMetadataService.annotate", false]], "annotate() (gpsea.preprocessing.proteinmetadataservice method)": [[17, "gpsea.preprocessing.ProteinMetadataService.annotate", false]], "annotate() (gpsea.preprocessing.uniprotproteinmetadataservice method)": [[17, "gpsea.preprocessing.UniprotProteinMetadataService.annotate", false]], "annotate() (gpsea.preprocessing.varcachingfunctionalannotator method)": [[17, "gpsea.preprocessing.VarCachingFunctionalAnnotator.annotate", false]], "annotate() (gpsea.preprocessing.vepfunctionalannotator method)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator.annotate", false]], "any() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.any", false]], "apply_predicates_on_patients() (in module gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.apply_predicates_on_patients", false]], "biallelic_predicate() (in module gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.biallelic_predicate", false]], "birth() (gpsea.model.age static method)": [[15, "gpsea.model.Age.birth", false]], "cache_env (in module gpsea.config)": [[13, "gpsea.config.CACHE_ENV", false]], "cds_end (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.cds_end", false]], "cds_start (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.cds_start", false]], "change_length (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.change_length", false]], "change_length() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.change_length", false]], "chrom (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.chrom", false]], "code (gpsea.analysis.mtc_filter.phenotypemtcissue attribute)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcIssue.code", false]], "code (gpsea.model.genotype property)": [[15, "gpsea.model.Genotype.code", false]], "coding_sequence_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.CODING_SEQUENCE_VARIANT", false]], "cohort (class in gpsea.model)": [[15, "gpsea.model.Cohort", false]], "cohortcreator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.CohortCreator", false]], "cohortvariantviewer (class in gpsea.view)": [[19, "gpsea.view.CohortVariantViewer", false]], "cohortviewer (class in gpsea.view)": [[19, "gpsea.view.CohortViewer", false]], "coiled_coil (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.COILED_COIL", false]], "compare_genotype_vs_phenotype_score() (gpsea.analysis.pscore.phenotypescoreanalysis method)": [[8, "gpsea.analysis.pscore.PhenotypeScoreAnalysis.compare_genotype_vs_phenotype_score", false]], "compare_genotype_vs_phenotypes() (gpsea.analysis.pcats.multiphenotypeanalysis method)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysis.compare_genotype_vs_phenotypes", false]], "compare_genotype_vs_survival() (gpsea.analysis.temporal.survivalanalysis method)": [[10, "gpsea.analysis.temporal.SurvivalAnalysis.compare_genotype_vs_survival", false]], "complete_records() (gpsea.analysis.monophenotypeanalysisresult method)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.complete_records", false]], "compositional_bias (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.COMPOSITIONAL_BIAS", false]], "compute_pval() (gpsea.analysis.pcats.stats.countstatistic method)": [[4, "gpsea.analysis.pcats.stats.CountStatistic.compute_pval", false]], "compute_pval() (gpsea.analysis.pcats.stats.fisherexacttest method)": [[4, "gpsea.analysis.pcats.stats.FisherExactTest.compute_pval", false]], "compute_pval() (gpsea.analysis.pscore.stats.mannwhitneystatistic method)": [[9, "gpsea.analysis.pscore.stats.MannWhitneyStatistic.compute_pval", false]], "compute_pval() (gpsea.analysis.pscore.stats.phenotypescorestatistic method)": [[9, "gpsea.analysis.pscore.stats.PhenotypeScoreStatistic.compute_pval", false]], "compute_pval() (gpsea.analysis.pscore.stats.tteststatistic method)": [[9, "gpsea.analysis.pscore.stats.TTestStatistic.compute_pval", false]], "compute_pval() (gpsea.analysis.temporal.stats.logranktest method)": [[12, "gpsea.analysis.temporal.stats.LogRankTest.compute_pval", false]], "compute_pval() (gpsea.analysis.temporal.stats.survivalstatistic method)": [[12, "gpsea.analysis.temporal.stats.SurvivalStatistic.compute_pval", false]], "compute_survival() (gpsea.analysis.temporal.endpoint method)": [[10, "gpsea.analysis.temporal.Endpoint.compute_survival", false]], "configure_caching_cohort_creator() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.configure_caching_cohort_creator", false]], "configure_cohort_creator() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.configure_cohort_creator", false]], "configure_default_protein_metadata_service() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.configure_default_protein_metadata_service", false]], "configure_hpo_term_analysis() (in module gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.configure_hpo_term_analysis", false]], "configure_protein_metadata_service() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.configure_protein_metadata_service", false]], "contains() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.contains", false]], "contains() (gpsea.model.genome.region method)": [[16, "gpsea.model.genome.Region.contains", false]], "contains_pos() (gpsea.model.genome.region method)": [[16, "gpsea.model.genome.Region.contains_pos", false]], "contig (class in gpsea.model.genome)": [[16, "gpsea.model.genome.Contig", false]], "contig (gpsea.model.genome.genomicregion property)": [[16, "gpsea.model.genome.GenomicRegion.contig", false]], "contig_by_name() (gpsea.model.genome.genomebuild method)": [[16, "gpsea.model.genome.GenomeBuild.contig_by_name", false]], "contigs (gpsea.model.genome.genomebuild property)": [[16, "gpsea.model.genome.GenomeBuild.contigs", false]], "corrected_pvals (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.corrected_pvals", false]], "corrected_pvals (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.corrected_pvals", false]], "count() (gpsea.analysis.predicate.genotype.allelecounter method)": [[6, "gpsea.analysis.predicate.genotype.AlleleCounter.count", false]], "count_alive() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_alive", false]], "count_deceased() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_deceased", false]], "count_distinct_hpo_terms() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_distinct_hpo_terms", false]], "count_females() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_females", false]], "count_males() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_males", false]], "count_unknown_sex() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_unknown_sex", false]], "count_unknown_vital_status() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_unknown_vital_status", false]], "count_with_age_of_last_encounter() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_with_age_of_last_encounter", false]], "count_with_disease_onset() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.count_with_disease_onset", false]], "countingphenotypescorer (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer", false]], "countstatistic (class in gpsea.analysis.pcats.stats)": [[4, "gpsea.analysis.pcats.stats.CountStatistic", false]], "create() (gpsea.model.proteinfeature static method)": [[15, "gpsea.model.ProteinFeature.create", false]], "create_variant_from_scratch() (gpsea.model.variant static method)": [[15, "gpsea.model.Variant.create_variant_from_scratch", false]], "curie (gpsea.model.varianteffect property)": [[15, "gpsea.model.VariantEffect.curie", false]], "data (gpsea.analysis.monophenotypeanalysisresult property)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.data", false]], "data_columns (gpsea.analysis.monophenotypeanalysisresult attribute)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.DATA_COLUMNS", false]], "days (gpsea.model.age property)": [[15, "gpsea.model.Age.days", false]], "days_in_month (gpsea.model.age attribute)": [[15, "gpsea.model.Age.DAYS_IN_MONTH", false]], "days_in_week (gpsea.model.age attribute)": [[15, "gpsea.model.Age.DAYS_IN_WEEK", false]], "days_in_year (gpsea.model.age attribute)": [[15, "gpsea.model.Age.DAYS_IN_YEAR", false]], "death() (in module gpsea.analysis.temporal.endpoint)": [[11, "gpsea.analysis.temporal.endpoint.death", false]], "deceased (gpsea.model.status attribute)": [[15, "gpsea.model.Status.DECEASED", false]], "default() (gpsea.io.gpseajsonencoder method)": [[14, "gpsea.io.GpseaJSONEncoder.default", false]], "default_cache_path (in module gpsea.config)": [[13, "gpsea.config.DEFAULT_CACHE_PATH", false]], "default_filter() (gpsea.analysis.mtc_filter.hpomtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.default_filter", false]], "default_parser() (gpsea.preprocessing.phenopacketontologytermonsetparser static method)": [[17, "gpsea.preprocessing.PhenopacketOntologyTermOnsetParser.default_parser", false]], "defaultimprecisesvfunctionalannotator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.DefaultImpreciseSvFunctionalAnnotator", false]], "del (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.DEL", false]], "description (gpsea.analysis.predicate.phenotype.diseasepresencepredicate property)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.description", false]], "description (gpsea.analysis.predicate.phenotype.hpopredicate property)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.description", false]], "description (gpsea.analysis.pscore.countingphenotypescorer property)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer.description", false]], "description (gpsea.analysis.pscore.devriesphenotypescorer property)": [[8, "gpsea.analysis.pscore.DeVriesPhenotypeScorer.description", false]], "description (gpsea.analysis.pscore.measurementphenotypescorer property)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.description", false]], "devriesphenotypescorer (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.DeVriesPhenotypeScorer", false]], "diagnosis_predicate() (in module gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.diagnosis_predicate", false]], "disease (class in gpsea.model)": [[15, "gpsea.model.Disease", false]], "disease_by_id() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.disease_by_id", false]], "disease_onset() (in module gpsea.analysis.temporal.endpoint)": [[11, "gpsea.analysis.temporal.endpoint.disease_onset", false]], "diseaseanalysis (class in gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.DiseaseAnalysis", false]], "diseasepresencepredicate (class in gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate", false]], "diseases (gpsea.model.patient property)": [[15, "gpsea.model.Patient.diseases", false]], "diseaseviewer (class in gpsea.view)": [[19, "gpsea.view.DiseaseViewer", false]], "distance_to() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.distance_to", false]], "distance_to() (gpsea.model.genome.region method)": [[16, "gpsea.model.genome.Region.distance_to", false]], "domain (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.DOMAIN", false]], "domains() (gpsea.model.proteinmetadata method)": [[15, "gpsea.model.ProteinMetadata.domains", false]], "downstream_gene_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.DOWNSTREAM_GENE_VARIANT", false]], "draw_fig() (gpsea.view.proteinvisualizer method)": [[19, "gpsea.view.ProteinVisualizer.draw_fig", false]], "draw_protein_diagram() (gpsea.view.proteinvisualizer method)": [[19, "gpsea.view.ProteinVisualizer.draw_protein_diagram", false]], "draw_variants() (gpsea.view.varianttranscriptvisualizer method)": [[19, "gpsea.view.VariantTranscriptVisualizer.draw_variants", false]], "dup (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.DUP", false]], "empty() (gpsea.model.genotypes static method)": [[15, "gpsea.model.Genotypes.empty", false]], "end (gpsea.model.featureinfo property)": [[15, "gpsea.model.FeatureInfo.end", false]], "end (gpsea.model.genome.region property)": [[16, "gpsea.model.genome.Region.end", false]], "end (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.end", false]], "end_on_strand() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.end_on_strand", false]], "endpoint (class in gpsea.analysis.temporal)": [[10, "gpsea.analysis.temporal.Endpoint", false]], "endpoint (gpsea.analysis.temporal.survivalanalysisresult property)": [[10, "gpsea.analysis.temporal.SurvivalAnalysisResult.endpoint", false]], "excluded_diseases() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.excluded_diseases", false]], "excluded_phenotypes() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.excluded_phenotypes", false]], "exon() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.exon", false]], "exons (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.exons", false]], "fail() (gpsea.analysis.mtc_filter.phenotypemtcresult static method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.fail", false]], "feature_elongation (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.FEATURE_ELONGATION", false]], "feature_truncation (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.FEATURE_TRUNCATION", false]], "feature_type (gpsea.model.proteinfeature property)": [[15, "gpsea.model.ProteinFeature.feature_type", false]], "featureinfo (class in gpsea.model)": [[15, "gpsea.model.FeatureInfo", false]], "featuretype (class in gpsea.model)": [[15, "gpsea.model.FeatureType", false]], "female (gpsea.model.sex attribute)": [[15, "gpsea.model.Sex.FEMALE", false]], "fetch() (gpsea.preprocessing.transcriptcoordinateservice method)": [[17, "gpsea.preprocessing.TranscriptCoordinateService.fetch", false]], "fetch() (gpsea.preprocessing.vvmulticoordinateservice method)": [[17, "gpsea.preprocessing.VVMultiCoordinateService.fetch", false]], "fetch_for_gene() (gpsea.preprocessing.genecoordinateservice method)": [[17, "gpsea.preprocessing.GeneCoordinateService.fetch_for_gene", false]], "fetch_for_gene() (gpsea.preprocessing.vvmulticoordinateservice method)": [[17, "gpsea.preprocessing.VVMultiCoordinateService.fetch_for_gene", false]], "fetch_response() (gpsea.preprocessing.vepfunctionalannotator method)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator.fetch_response", false]], "filter() (gpsea.analysis.mtc_filter.hpomtcfilter method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.filter", false]], "filter() (gpsea.analysis.mtc_filter.phenotypemtcfilter method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcFilter.filter", false]], "filter() (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.filter", false]], "filter() (gpsea.analysis.mtc_filter.usealltermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.UseAllTermsMtcFilter.filter", false]], "filter_method_name() (gpsea.analysis.mtc_filter.hpomtcfilter method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.filter_method_name", false]], "filter_method_name() (gpsea.analysis.mtc_filter.phenotypemtcfilter method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcFilter.filter_method_name", false]], "filter_method_name() (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.filter_method_name", false]], "filter_method_name() (gpsea.analysis.mtc_filter.usealltermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.UseAllTermsMtcFilter.filter_method_name", false]], "find_coordinates() (gpsea.preprocessing.phenopacketvariantcoordinatefinder method)": [[17, "gpsea.preprocessing.PhenopacketVariantCoordinateFinder.find_coordinates", false]], "find_coordinates() (gpsea.preprocessing.variantcoordinatefinder method)": [[17, "gpsea.preprocessing.VariantCoordinateFinder.find_coordinates", false]], "find_coordinates() (gpsea.preprocessing.vvhgvsvariantcoordinatefinder method)": [[17, "gpsea.preprocessing.VVHgvsVariantCoordinateFinder.find_coordinates", false]], "fisherexacttest (class in gpsea.analysis.pcats.stats)": [[4, "gpsea.analysis.pcats.stats.FisherExactTest", false]], "five_prime_utr_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.FIVE_PRIME_UTR_VARIANT", false]], "for_sample() (gpsea.model.genotypes method)": [[15, "gpsea.model.Genotypes.for_sample", false]], "format_as_string() (gpsea.view.formatter method)": [[19, "gpsea.view.Formatter.format_as_string", false]], "format_as_string() (gpsea.view.variantformatter method)": [[19, "gpsea.view.VariantFormatter.format_as_string", false]], "format_coordinates_for_vep_query() (gpsea.preprocessing.vepfunctionalannotator static method)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator.format_coordinates_for_vep_query", false]], "formatter (class in gpsea.view)": [[19, "gpsea.view.Formatter", false]], "frameshift_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.FRAMESHIFT_VARIANT", false]], "from_feature_frame() (gpsea.model.proteinmetadata static method)": [[15, "gpsea.model.ProteinMetadata.from_feature_frame", false]], "from_iso8601_period() (gpsea.model.age static method)": [[15, "gpsea.model.Age.from_iso8601_period", false]], "from_mapping() (gpsea.model.genotypes static method)": [[15, "gpsea.model.Genotypes.from_mapping", false]], "from_measurement_id() (gpsea.analysis.pscore.measurementphenotypescorer static method)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.from_measurement_id", false]], "from_patients() (gpsea.model.cohort static method)": [[15, "gpsea.model.Cohort.from_patients", false]], "from_query_curies() (gpsea.analysis.pscore.countingphenotypescorer static method)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer.from_query_curies", false]], "from_raw_parts() (gpsea.model.disease static method)": [[15, "gpsea.model.Disease.from_raw_parts", false]], "from_raw_parts() (gpsea.model.patient static method)": [[15, "gpsea.model.Patient.from_raw_parts", false]], "from_raw_parts() (gpsea.model.phenotype static method)": [[15, "gpsea.model.Phenotype.from_raw_parts", false]], "from_string() (gpsea.model.featuretype static method)": [[15, "gpsea.model.FeatureType.from_string", false]], "from_term() (gpsea.model.phenotype static method)": [[15, "gpsea.model.Phenotype.from_term", false]], "from_uniprot_json() (gpsea.model.proteinmetadata static method)": [[15, "gpsea.model.ProteinMetadata.from_uniprot_json", false]], "from_vcf_literal() (gpsea.model.variantcoordinates static method)": [[15, "gpsea.model.VariantCoordinates.from_vcf_literal", false]], "from_vcf_symbolic() (gpsea.model.variantcoordinates static method)": [[15, "gpsea.model.VariantCoordinates.from_vcf_symbolic", false]], "functionalannotationaware (class in gpsea.model)": [[15, "gpsea.model.FunctionalAnnotationAware", false]], "functionalannotator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.FunctionalAnnotator", false]], "genbank_acc (gpsea.model.genome.contig property)": [[16, "gpsea.model.genome.Contig.genbank_acc", false]], "gene() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.gene", false]], "gene_id (gpsea.model.imprecisesvinfo property)": [[15, "gpsea.model.ImpreciseSvInfo.gene_id", false]], "gene_id (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.gene_id", false]], "gene_id (gpsea.model.transcriptinfoaware property)": [[15, "gpsea.model.TranscriptInfoAware.gene_id", false]], "gene_symbol (gpsea.model.imprecisesvinfo property)": [[15, "gpsea.model.ImpreciseSvInfo.gene_symbol", false]], "genecoordinateservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.GeneCoordinateService", false]], "genome_build_id (gpsea.model.genome.genomebuild property)": [[16, "gpsea.model.genome.GenomeBuild.genome_build_id", false]], "genomebuild (class in gpsea.model.genome)": [[16, "gpsea.model.genome.GenomeBuild", false]], "genomebuildidentifier (class in gpsea.model.genome)": [[16, "gpsea.model.genome.GenomeBuildIdentifier", false]], "genomicregion (class in gpsea.model.genome)": [[16, "gpsea.model.genome.GenomicRegion", false]], "genotype (class in gpsea.model)": [[15, "gpsea.model.Genotype", false]], "genotype_for_sample() (gpsea.model.genotyped method)": [[15, "gpsea.model.Genotyped.genotype_for_sample", false]], "genotyped (class in gpsea.model)": [[15, "gpsea.model.Genotyped", false]], "genotypepolypredicate (class in gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.GenotypePolyPredicate", false]], "genotypes (class in gpsea.model)": [[15, "gpsea.model.Genotypes", false]], "genotypes (gpsea.model.genotyped property)": [[15, "gpsea.model.Genotyped.genotypes", false]], "genotypes (gpsea.model.variant property)": [[15, "gpsea.model.Variant.genotypes", false]], "gestational (gpsea.model.timeline attribute)": [[15, "gpsea.model.Timeline.GESTATIONAL", false]], "gestational() (gpsea.model.age static method)": [[15, "gpsea.model.Age.gestational", false]], "gestational_days() (gpsea.model.age static method)": [[15, "gpsea.model.Age.gestational_days", false]], "get_annotations() (gpsea.preprocessing.proteinannotationcache method)": [[17, "gpsea.preprocessing.ProteinAnnotationCache.get_annotations", false]], "get_annotations() (gpsea.preprocessing.variantannotationcache method)": [[17, "gpsea.preprocessing.VariantAnnotationCache.get_annotations", false]], "get_cache_dir_path() (in module gpsea.config)": [[13, "gpsea.config.get_cache_dir_path", false]], "get_categories() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.get_categories", false]], "get_categorizations() (gpsea.analysis.predicate.phenotype.diseasepresencepredicate method)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.get_categorizations", false]], "get_categorizations() (gpsea.analysis.predicate.phenotype.hpopredicate method)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.get_categorizations", false]], "get_categorizations() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.get_categorizations", false]], "get_category() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.get_category", false]], "get_category_name() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.get_category_name", false]], "get_cds_regions() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.get_cds_regions", false]], "get_coding_base_count() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.get_coding_base_count", false]], "get_codon_count() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.get_codon_count", false]], "get_excluded_count() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.get_excluded_count", false]], "get_features_variant_overlaps() (gpsea.model.proteinmetadata method)": [[15, "gpsea.model.ProteinMetadata.get_features_variant_overlaps", false]], "get_five_prime_utrs() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.get_five_prime_utrs", false]], "get_hgvs_cdna_by_tx_id() (gpsea.model.functionalannotationaware method)": [[15, "gpsea.model.FunctionalAnnotationAware.get_hgvs_cdna_by_tx_id", false]], "get_maximum_group_observed_hpo_frequency() (gpsea.analysis.mtc_filter.hpomtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.get_maximum_group_observed_HPO_frequency", false]], "get_number_of_observed_hpo_observations() (gpsea.analysis.mtc_filter.hpomtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.get_number_of_observed_hpo_observations", false]], "get_patient_ids() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.get_patient_ids", false]], "get_preferred_tx_annotation() (gpsea.model.functionalannotationaware method)": [[15, "gpsea.model.FunctionalAnnotationAware.get_preferred_tx_annotation", false]], "get_question() (gpsea.analysis.predicate.genotype.allelecounter method)": [[6, "gpsea.analysis.predicate.genotype.AlleleCounter.get_question", false]], "get_question() (gpsea.analysis.predicate.genotype.variantpredicate method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicate.get_question", false]], "get_response() (gpsea.preprocessing.vvmulticoordinateservice method)": [[17, "gpsea.preprocessing.VVMultiCoordinateService.get_response", false]], "get_three_prime_utrs() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.get_three_prime_utrs", false]], "get_tx_anno_by_tx_id() (gpsea.model.functionalannotationaware method)": [[15, "gpsea.model.FunctionalAnnotationAware.get_tx_anno_by_tx_id", false]], "get_variant_by_key() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.get_variant_by_key", false]], "gpsea": [[0, "module-gpsea", false]], "gpsea.analysis": [[1, "module-gpsea.analysis", false]], "gpsea.analysis.mtc_filter": [[2, "module-gpsea.analysis.mtc_filter", false]], "gpsea.analysis.pcats": [[3, "module-gpsea.analysis.pcats", false]], "gpsea.analysis.pcats.stats": [[4, "module-gpsea.analysis.pcats.stats", false]], "gpsea.analysis.predicate": [[5, "module-gpsea.analysis.predicate", false]], "gpsea.analysis.predicate.genotype": [[6, "module-gpsea.analysis.predicate.genotype", false]], "gpsea.analysis.predicate.phenotype": [[7, "module-gpsea.analysis.predicate.phenotype", false]], "gpsea.analysis.pscore": [[8, "module-gpsea.analysis.pscore", false]], "gpsea.analysis.pscore.stats": [[9, "module-gpsea.analysis.pscore.stats", false]], "gpsea.analysis.temporal": [[10, "module-gpsea.analysis.temporal", false]], "gpsea.analysis.temporal.endpoint": [[11, "module-gpsea.analysis.temporal.endpoint", false]], "gpsea.analysis.temporal.stats": [[12, "module-gpsea.analysis.temporal.stats", false]], "gpsea.config": [[13, "module-gpsea.config", false]], "gpsea.io": [[14, "module-gpsea.io", false]], "gpsea.model": [[15, "module-gpsea.model", false]], "gpsea.model.genome": [[16, "module-gpsea.model.genome", false]], "gpsea.preprocessing": [[17, "module-gpsea.preprocessing", false]], "gpsea.util": [[18, "module-gpsea.util", false]], "gpsea.view": [[19, "module-gpsea.view", false]], "gpseajsondecoder (class in gpsea.io)": [[14, "gpsea.io.GpseaJSONDecoder", false]], "gpseajsonencoder (class in gpsea.io)": [[14, "gpsea.io.GpseaJSONEncoder", false]], "gpseareport (class in gpsea.view)": [[19, "gpsea.view.GpseaReport", false]], "group_labels (gpsea.analysis.predicate.polypredicate property)": [[5, "gpsea.analysis.predicate.PolyPredicate.group_labels", false]], "gt_col (gpsea.analysis.monophenotypeanalysisresult attribute)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.GT_COL", false]], "gt_predicate (gpsea.analysis.analysisresult property)": [[1, "gpsea.analysis.AnalysisResult.gt_predicate", false]], "has_sv_info() (gpsea.model.variantinfo method)": [[15, "gpsea.model.VariantInfo.has_sv_info", false]], "has_variant_coordinates() (gpsea.model.variantinfo method)": [[15, "gpsea.model.VariantInfo.has_variant_coordinates", false]], "hemizygous (gpsea.model.genotype attribute)": [[15, "gpsea.model.Genotype.HEMIZYGOUS", false]], "heterozygous (gpsea.model.genotype attribute)": [[15, "gpsea.model.Genotype.HETEROZYGOUS", false]], "hgvs_cdna (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.hgvs_cdna", false]], "hgvsp (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.hgvsp", false]], "homozygous_alternate (gpsea.model.genotype attribute)": [[15, "gpsea.model.Genotype.HOMOZYGOUS_ALTERNATE", false]], "homozygous_reference (gpsea.model.genotype attribute)": [[15, "gpsea.model.Genotype.HOMOZYGOUS_REFERENCE", false]], "hpo_onset() (in module gpsea.analysis.temporal.endpoint)": [[11, "gpsea.analysis.temporal.endpoint.hpo_onset", false]], "hpomtcfilter (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter", false]], "hpopredicate (class in gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate", false]], "hpotermanalysis (class in gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.HpoTermAnalysis", false]], "hpotermanalysisresult (class in gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.HpoTermAnalysisResult", false]], "identifier (gpsea.model.disease property)": [[15, "gpsea.model.Disease.identifier", false]], "identifier (gpsea.model.genome.genomebuild property)": [[16, "gpsea.model.genome.GenomeBuild.identifier", false]], "identifier (gpsea.model.genome.genomebuildidentifier property)": [[16, "gpsea.model.genome.GenomeBuildIdentifier.identifier", false]], "identifier (gpsea.model.measurement property)": [[15, "gpsea.model.Measurement.identifier", false]], "identifier (gpsea.model.phenotype property)": [[15, "gpsea.model.Phenotype.identifier", false]], "identifier (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.identifier", false]], "imprecisesvfunctionalannotator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.ImpreciseSvFunctionalAnnotator", false]], "imprecisesvinfo (class in gpsea.model)": [[15, "gpsea.model.ImpreciseSvInfo", false]], "incomplete_terminal_codon_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.INCOMPLETE_TERMINAL_CODON_VARIANT", false]], "info (gpsea.model.proteinfeature property)": [[15, "gpsea.model.ProteinFeature.info", false]], "inframe_deletion (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.INFRAME_DELETION", false]], "inframe_insertion (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.INFRAME_INSERTION", false]], "ins (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.INS", false]], "intergenic_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.INTERGENIC_VARIANT", false]], "intron_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.INTRON_VARIANT", false]], "inv (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.INV", false]], "is_alive (gpsea.model.vitalstatus property)": [[15, "gpsea.model.VitalStatus.is_alive", false]], "is_censored (gpsea.analysis.temporal.survival attribute)": [[10, "gpsea.analysis.temporal.Survival.is_censored", false]], "is_coding() (gpsea.model.transcriptcoordinates method)": [[15, "gpsea.model.TranscriptCoordinates.is_coding", false]], "is_deceased (gpsea.model.vitalstatus property)": [[15, "gpsea.model.VitalStatus.is_deceased", false]], "is_empty() (gpsea.model.genome.region method)": [[16, "gpsea.model.genome.Region.is_empty", false]], "is_female() (gpsea.model.sex method)": [[15, "gpsea.model.Sex.is_female", false]], "is_filtered_out() (gpsea.analysis.mtc_filter.phenotypemtcresult method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.is_filtered_out", false]], "is_gestational (gpsea.model.age property)": [[15, "gpsea.model.Age.is_gestational", false]], "is_large_imprecise_sv() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.is_large_imprecise_sv", false]], "is_male() (gpsea.model.sex method)": [[15, "gpsea.model.Sex.is_male", false]], "is_negative() (gpsea.model.genome.strand method)": [[16, "gpsea.model.genome.Strand.is_negative", false]], "is_observed (gpsea.model.phenotype property)": [[15, "gpsea.model.Phenotype.is_observed", false]], "is_ok() (gpsea.preprocessing.preprocessingvalidationresult method)": [[17, "gpsea.preprocessing.PreprocessingValidationResult.is_ok", false]], "is_passed() (gpsea.analysis.mtc_filter.phenotypemtcresult method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.is_passed", false]], "is_positive() (gpsea.model.genome.strand method)": [[16, "gpsea.model.genome.Strand.is_positive", false]], "is_postnatal (gpsea.model.age property)": [[15, "gpsea.model.Age.is_postnatal", false]], "is_preferred (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.is_preferred", false]], "is_preferred (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.is_preferred", false]], "is_present (gpsea.model.disease property)": [[15, "gpsea.model.Disease.is_present", false]], "is_present (gpsea.model.phenotype property)": [[15, "gpsea.model.Phenotype.is_present", false]], "is_provided() (gpsea.model.sex method)": [[15, "gpsea.model.Sex.is_provided", false]], "is_structural() (gpsea.model.variantcoordinates method)": [[15, "gpsea.model.VariantCoordinates.is_structural", false]], "is_structural() (gpsea.model.variantinfo method)": [[15, "gpsea.model.VariantInfo.is_structural", false]], "is_structural_deletion() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.is_structural_deletion", false]], "is_structural_variant() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.is_structural_variant", false]], "is_unknown (gpsea.model.vitalstatus property)": [[15, "gpsea.model.VitalStatus.is_unknown", false]], "is_unknown() (gpsea.model.sex method)": [[15, "gpsea.model.Sex.is_unknown", false]], "iso8601pt (gpsea.model.age attribute)": [[15, "gpsea.model.Age.ISO8601PT", false]], "label (gpsea.analysis.pscore.measurementphenotypescorer property)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.label", false]], "label (gpsea.model.proteinmetadata property)": [[15, "gpsea.model.ProteinMetadata.label", false]], "label (gpsea.model.samplelabels property)": [[15, "gpsea.model.SampleLabels.label", false]], "label_summary() (gpsea.model.samplelabels method)": [[15, "gpsea.model.SampleLabels.label_summary", false]], "labels (gpsea.model.patient property)": [[15, "gpsea.model.Patient.labels", false]], "last_menstrual_period() (gpsea.model.age static method)": [[15, "gpsea.model.Age.last_menstrual_period", false]], "list_all_diseases() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.list_all_diseases", false]], "list_all_proteins() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.list_all_proteins", false]], "list_all_variants() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.list_all_variants", false]], "list_measurements() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.list_measurements", false]], "list_present_phenotypes() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.list_present_phenotypes", false]], "load_phenopacket_files() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.load_phenopacket_files", false]], "load_phenopacket_folder() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.load_phenopacket_folder", false]], "load_phenopackets() (in module gpsea.preprocessing)": [[17, "gpsea.preprocessing.load_phenopackets", false]], "logranktest (class in gpsea.analysis.temporal.stats)": [[12, "gpsea.analysis.temporal.stats.LogRankTest", false]], "major_assembly (gpsea.model.genome.genomebuildidentifier property)": [[16, "gpsea.model.genome.GenomeBuildIdentifier.major_assembly", false]], "male (gpsea.model.sex attribute)": [[15, "gpsea.model.Sex.MALE", false]], "mannwhitneystatistic (class in gpsea.analysis.pscore.stats)": [[9, "gpsea.analysis.pscore.stats.MannWhitneyStatistic", false]], "marker_counts (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.marker_counts", false]], "mature_mirna_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.MATURE_MIRNA_VARIANT", false]], "measurement (class in gpsea.model)": [[15, "gpsea.model.Measurement", false]], "measurement_by_id() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.measurement_by_id", false]], "measurementphenotypescorer (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer", false]], "measurements (gpsea.model.patient property)": [[15, "gpsea.model.Patient.measurements", false]], "meta_label (gpsea.model.samplelabels property)": [[15, "gpsea.model.SampleLabels.meta_label", false]], "missense_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.MISSENSE_VARIANT", false]], "mnv (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.MNV", false]], "module": [[0, "module-gpsea", false], [1, "module-gpsea.analysis", false], [2, "module-gpsea.analysis.mtc_filter", false], [3, "module-gpsea.analysis.pcats", false], [4, "module-gpsea.analysis.pcats.stats", false], [5, "module-gpsea.analysis.predicate", false], [6, "module-gpsea.analysis.predicate.genotype", false], [7, "module-gpsea.analysis.predicate.phenotype", false], [8, "module-gpsea.analysis.pscore", false], [9, "module-gpsea.analysis.pscore.stats", false], [10, "module-gpsea.analysis.temporal", false], [11, "module-gpsea.analysis.temporal.endpoint", false], [12, "module-gpsea.analysis.temporal.stats", false], [13, "module-gpsea.config", false], [14, "module-gpsea.io", false], [15, "module-gpsea.model", false], [16, "module-gpsea.model.genome", false], [17, "module-gpsea.preprocessing", false], [18, "module-gpsea.util", false], [19, "module-gpsea.view", false]], "monoallelic_predicate() (in module gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.monoallelic_predicate", false]], "monophenotypeanalysisresult (class in gpsea.analysis)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult", false]], "motif (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.MOTIF", false]], "motifs() (gpsea.model.proteinmetadata method)": [[15, "gpsea.model.ProteinMetadata.motifs", false]], "mtc_correction (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.mtc_correction", false]], "mtc_correction (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.mtc_correction", false]], "mtc_filter_name (gpsea.analysis.pcats.hpotermanalysisresult property)": [[3, "gpsea.analysis.pcats.HpoTermAnalysisResult.mtc_filter_name", false]], "mtc_filter_results (gpsea.analysis.pcats.hpotermanalysisresult property)": [[3, "gpsea.analysis.pcats.HpoTermAnalysisResult.mtc_filter_results", false]], "mtc_issue (gpsea.analysis.mtc_filter.phenotypemtcresult property)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.mtc_issue", false]], "mtcstatsviewer (class in gpsea.view)": [[19, "gpsea.view.MtcStatsViewer", false]], "multiphenotypeanalysis (class in gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysis", false]], "multiphenotypeanalysisresult (class in gpsea.analysis)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult", false]], "multiphenotypeanalysisresult (class in gpsea.analysis.pcats)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult", false]], "n_categorizations() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.n_categorizations", false]], "n_filtered_out() (gpsea.analysis.pcats.hpotermanalysisresult method)": [[3, "gpsea.analysis.pcats.HpoTermAnalysisResult.n_filtered_out", false]], "n_significant_for_alpha() (gpsea.analysis.multiphenotypeanalysisresult method)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.n_significant_for_alpha", false]], "n_significant_for_alpha() (gpsea.analysis.pcats.multiphenotypeanalysisresult method)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.n_significant_for_alpha", false]], "n_usable (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.n_usable", false]], "n_usable (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.n_usable", false]], "name (gpsea.analysis.predicate.phenotype.diseasepresencepredicate property)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.name", false]], "name (gpsea.analysis.predicate.phenotype.hpopredicate property)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.name", false]], "name (gpsea.analysis.pscore.countingphenotypescorer property)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer.name", false]], "name (gpsea.analysis.pscore.devriesphenotypescorer property)": [[8, "gpsea.analysis.pscore.DeVriesPhenotypeScorer.name", false]], "name (gpsea.analysis.pscore.measurementphenotypescorer property)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.name", false]], "name (gpsea.model.disease property)": [[15, "gpsea.model.Disease.name", false]], "name (gpsea.model.featureinfo property)": [[15, "gpsea.model.FeatureInfo.name", false]], "name (gpsea.model.genome.contig property)": [[16, "gpsea.model.genome.Contig.name", false]], "name (gpsea.model.measurement property)": [[15, "gpsea.model.Measurement.name", false]], "negative (gpsea.model.genome.strand attribute)": [[16, "gpsea.model.genome.Strand.NEGATIVE", false]], "nmd_transcript_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.NMD_TRANSCRIPT_VARIANT", false]], "no_call (gpsea.model.genotype attribute)": [[15, "gpsea.model.Genotype.NO_CALL", false]], "no_genotype_has_more_than_one_hpo (gpsea.analysis.mtc_filter.hpomtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.NO_GENOTYPE_HAS_MORE_THAN_ONE_HPO", false]], "non_coding_transcript_exon_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.NON_CODING_TRANSCRIPT_EXON_VARIANT", false]], "non_coding_transcript_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.NON_CODING_TRANSCRIPT_VARIANT", false]], "non_specified_term (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.NON_SPECIFIED_TERM", false]], "noncoding_effects (gpsea.preprocessing.vepfunctionalannotator attribute)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator.NONCODING_EFFECTS", false]], "object_hook() (gpsea.io.gpseajsondecoder static method)": [[14, "gpsea.io.GpseaJSONDecoder.object_hook", false]], "observed (gpsea.model.phenotype property)": [[15, "gpsea.model.Phenotype.observed", false]], "ok (gpsea.analysis.mtc_filter.phenotypemtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcFilter.OK", false]], "ok() (gpsea.analysis.mtc_filter.phenotypemtcresult static method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.ok", false]], "one_genotype_has_zero_hpo_observations() (gpsea.analysis.mtc_filter.hpomtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.one_genotype_has_zero_hpo_observations", false]], "onset (gpsea.model.disease property)": [[15, "gpsea.model.Disease.onset", false]], "onset (gpsea.model.phenotype property)": [[15, "gpsea.model.Phenotype.onset", false]], "open_text_io_handle_for_reading() (in module gpsea.util)": [[18, "gpsea.util.open_text_io_handle_for_reading", false]], "open_text_io_handle_for_writing() (in module gpsea.util)": [[18, "gpsea.util.open_text_io_handle_for_writing", false]], "opposite() (gpsea.model.genome.strand method)": [[16, "gpsea.model.genome.Strand.opposite", false]], "overlapping_exons (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.overlapping_exons", false]], "overlaps_with() (gpsea.model.featureinfo method)": [[15, "gpsea.model.FeatureInfo.overlaps_with", false]], "overlaps_with() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.overlaps_with", false]], "overlaps_with() (gpsea.model.genome.region method)": [[16, "gpsea.model.genome.Region.overlaps_with", false]], "parse_multiple() (gpsea.preprocessing.vvmulticoordinateservice method)": [[17, "gpsea.preprocessing.VVMultiCoordinateService.parse_multiple", false]], "parse_response() (gpsea.preprocessing.vvmulticoordinateservice method)": [[17, "gpsea.preprocessing.VVMultiCoordinateService.parse_response", false]], "parse_uniprot_json() (gpsea.preprocessing.uniprotproteinmetadataservice static method)": [[17, "gpsea.preprocessing.UniprotProteinMetadataService.parse_uniprot_json", false]], "patch (gpsea.model.genome.genomebuildidentifier property)": [[16, "gpsea.model.genome.GenomeBuildIdentifier.patch", false]], "patient (class in gpsea.model)": [[15, "gpsea.model.Patient", false]], "patient_id (gpsea.model.patient property)": [[15, "gpsea.model.Patient.patient_id", false]], "patientcreator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.PatientCreator", false]], "ph_col (gpsea.analysis.monophenotypeanalysisresult attribute)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.PH_COL", false]], "pheno_predicates (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.pheno_predicates", false]], "pheno_predicates (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.pheno_predicates", false]], "phenopacketontologytermonsetparser (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.PhenopacketOntologyTermOnsetParser", false]], "phenopacketpatientcreator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.PhenopacketPatientCreator", false]], "phenopacketvariantcoordinatefinder (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.PhenopacketVariantCoordinateFinder", false]], "phenotype (class in gpsea.model)": [[15, "gpsea.model.Phenotype", false]], "phenotype (gpsea.analysis.monophenotypeanalysisresult property)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.phenotype", false]], "phenotype (gpsea.analysis.predicate.phenotype.diseasepresencepredicate property)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.phenotype", false]], "phenotype (gpsea.analysis.predicate.phenotype.hpopredicate property)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.phenotype", false]], "phenotype (gpsea.analysis.predicate.phenotype.phenotypecategorization property)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypeCategorization.phenotype", false]], "phenotype (gpsea.analysis.predicate.phenotype.phenotypepolypredicate property)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypePolyPredicate.phenotype", false]], "phenotype_by_id() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.phenotype_by_id", false]], "phenotype_scorer() (gpsea.analysis.pscore.phenotypescoreanalysisresult method)": [[8, "gpsea.analysis.pscore.PhenotypeScoreAnalysisResult.phenotype_scorer", false]], "phenotypecategorization (class in gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypeCategorization", false]], "phenotypemtcfilter (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcFilter", false]], "phenotypemtcissue (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcIssue", false]], "phenotypemtcresult (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult", false]], "phenotypepolypredicate (class in gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypePolyPredicate", false]], "phenotypes (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.phenotypes", false]], "phenotypes (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.phenotypes", false]], "phenotypes (gpsea.model.patient property)": [[15, "gpsea.model.Patient.phenotypes", false]], "phenotypescoreanalysis (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.PhenotypeScoreAnalysis", false]], "phenotypescoreanalysisresult (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.PhenotypeScoreAnalysisResult", false]], "phenotypescorer (class in gpsea.analysis.pscore)": [[8, "gpsea.analysis.pscore.PhenotypeScorer", false]], "phenotypescorestatistic (class in gpsea.analysis.pscore.stats)": [[9, "gpsea.analysis.pscore.stats.PhenotypeScoreStatistic", false]], "plot_boxplots() (gpsea.analysis.pscore.phenotypescoreanalysisresult method)": [[8, "gpsea.analysis.pscore.PhenotypeScoreAnalysisResult.plot_boxplots", false]], "plot_kaplan_meier_curves() (gpsea.analysis.temporal.survivalanalysisresult method)": [[10, "gpsea.analysis.temporal.SurvivalAnalysisResult.plot_kaplan_meier_curves", false]], "policy (gpsea.preprocessing.preprocessingvalidationresult property)": [[17, "gpsea.preprocessing.PreprocessingValidationResult.policy", false]], "polypredicate (class in gpsea.analysis.predicate)": [[5, "gpsea.analysis.predicate.PolyPredicate", false]], "positive (gpsea.model.genome.strand attribute)": [[16, "gpsea.model.genome.Strand.POSITIVE", false]], "possible_results() (gpsea.analysis.mtc_filter.hpomtcfilter method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.possible_results", false]], "possible_results() (gpsea.analysis.mtc_filter.phenotypemtcfilter method)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcFilter.possible_results", false]], "possible_results() (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.possible_results", false]], "possible_results() (gpsea.analysis.mtc_filter.usealltermsmtcfilter method)": [[2, "gpsea.analysis.mtc_filter.UseAllTermsMtcFilter.possible_results", false]], "postnatal (gpsea.model.timeline attribute)": [[15, "gpsea.model.Timeline.POSTNATAL", false]], "postnatal() (gpsea.model.age static method)": [[15, "gpsea.model.Age.postnatal", false]], "postnatal_days() (gpsea.model.age static method)": [[15, "gpsea.model.Age.postnatal_days", false]], "postnatal_years() (gpsea.model.age static method)": [[15, "gpsea.model.Age.postnatal_years", false]], "prepare_hpo_terms_of_interest() (in module gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.prepare_hpo_terms_of_interest", false]], "prepare_predicates_for_terms_of_interest() (in module gpsea.analysis.predicate.phenotype)": [[7, "gpsea.analysis.predicate.phenotype.prepare_predicates_for_terms_of_interest", false]], "preprocessingvalidationresult (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.PreprocessingValidationResult", false]], "present_diseases() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.present_diseases", false]], "present_phenotype_categorization (gpsea.analysis.predicate.phenotype.diseasepresencepredicate property)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.present_phenotype_categorization", false]], "present_phenotype_categorization (gpsea.analysis.predicate.phenotype.hpopredicate property)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.present_phenotype_categorization", false]], "present_phenotype_categorization (gpsea.analysis.predicate.phenotype.phenotypepolypredicate property)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypePolyPredicate.present_phenotype_categorization", false]], "present_phenotype_category (gpsea.analysis.predicate.phenotype.phenotypepolypredicate property)": [[7, "gpsea.analysis.predicate.phenotype.PhenotypePolyPredicate.present_phenotype_category", false]], "present_phenotypes() (gpsea.model.patient method)": [[15, "gpsea.model.Patient.present_phenotypes", false]], "process() (gpsea.preprocessing.cohortcreator method)": [[17, "gpsea.preprocessing.CohortCreator.process", false]], "process() (gpsea.preprocessing.patientcreator method)": [[17, "gpsea.preprocessing.PatientCreator.process", false]], "process() (gpsea.preprocessing.phenopacketontologytermonsetparser method)": [[17, "gpsea.preprocessing.PhenopacketOntologyTermOnsetParser.process", false]], "process() (gpsea.preprocessing.phenopacketpatientcreator method)": [[17, "gpsea.preprocessing.PhenopacketPatientCreator.process", false]], "process() (gpsea.view.cohortvariantviewer method)": [[19, "gpsea.view.CohortVariantViewer.process", false]], "process() (gpsea.view.cohortviewer method)": [[19, "gpsea.view.CohortViewer.process", false]], "process() (gpsea.view.diseaseviewer method)": [[19, "gpsea.view.DiseaseViewer.process", false]], "process() (gpsea.view.mtcstatsviewer method)": [[19, "gpsea.view.MtcStatsViewer.process", false]], "process() (gpsea.view.proteinvariantviewer method)": [[19, "gpsea.view.ProteinVariantViewer.process", false]], "process_response() (gpsea.preprocessing.vepfunctionalannotator method)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator.process_response", false]], "protcachingmetadataservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.ProtCachingMetadataService", false]], "protein_altering_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.PROTEIN_ALTERING_VARIANT", false]], "protein_effect_location (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.protein_effect_location", false]], "protein_feature() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.protein_feature", false]], "protein_feature_ends (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_feature_ends", false]], "protein_feature_names (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_feature_names", false]], "protein_feature_starts (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_feature_starts", false]], "protein_feature_type() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.protein_feature_type", false]], "protein_feature_types (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_feature_types", false]], "protein_features (gpsea.model.proteinmetadata property)": [[15, "gpsea.model.ProteinMetadata.protein_features", false]], "protein_id (gpsea.model.proteinmetadata property)": [[15, "gpsea.model.ProteinMetadata.protein_id", false]], "protein_id (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.protein_id", false]], "protein_id (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_id", false]], "protein_length (gpsea.model.proteinmetadata property)": [[15, "gpsea.model.ProteinMetadata.protein_length", false]], "protein_length (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_length", false]], "protein_metadata (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.protein_metadata", false]], "proteinannotationcache (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.ProteinAnnotationCache", false]], "proteinfeature (class in gpsea.model)": [[15, "gpsea.model.ProteinFeature", false]], "proteinmetadata (class in gpsea.model)": [[15, "gpsea.model.ProteinMetadata", false]], "proteinmetadataservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.ProteinMetadataService", false]], "proteinvariantviewer (class in gpsea.view)": [[19, "gpsea.view.ProteinVariantViewer", false]], "proteinvisualizable (class in gpsea.view)": [[19, "gpsea.view.ProteinVisualizable", false]], "proteinvisualizer (class in gpsea.view)": [[19, "gpsea.view.ProteinVisualizer", false]], "pval (gpsea.analysis.monophenotypeanalysisresult property)": [[1, "gpsea.analysis.MonoPhenotypeAnalysisResult.pval", false]], "pvals (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.pvals", false]], "pvals (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.pvals", false]], "reason (gpsea.analysis.mtc_filter.phenotypemtcissue attribute)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcIssue.reason", false]], "reason (gpsea.analysis.mtc_filter.phenotypemtcresult property)": [[2, "gpsea.analysis.mtc_filter.PhenotypeMtcResult.reason", false]], "ref (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.ref", false]], "ref_length() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.ref_length", false]], "refseq_name (gpsea.model.genome.contig property)": [[16, "gpsea.model.genome.Contig.refseq_name", false]], "region (class in gpsea.model.genome)": [[16, "gpsea.model.genome.Region", false]], "region (gpsea.model.featureinfo property)": [[15, "gpsea.model.FeatureInfo.region", false]], "region (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.REGION", false]], "region (gpsea.model.transcriptcoordinates property)": [[15, "gpsea.model.TranscriptCoordinates.region", false]], "region (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.region", false]], "region() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.region", false]], "regions() (gpsea.model.proteinmetadata method)": [[15, "gpsea.model.ProteinMetadata.regions", false]], "regulatory_region_ablation (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.REGULATORY_REGION_ABLATION", false]], "regulatory_region_amplification (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.REGULATORY_REGION_AMPLIFICATION", false]], "regulatory_region_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.REGULATORY_REGION_VARIANT", false]], "repeat (gpsea.model.featuretype attribute)": [[15, "gpsea.model.FeatureType.REPEAT", false]], "repeats() (gpsea.model.proteinmetadata method)": [[15, "gpsea.model.ProteinMetadata.repeats", false]], "same_count_as_the_only_child (gpsea.analysis.mtc_filter.hpomtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.SAME_COUNT_AS_THE_ONLY_CHILD", false]], "samplelabels (class in gpsea.model)": [[15, "gpsea.model.SampleLabels", false]], "score() (gpsea.analysis.pscore.countingphenotypescorer method)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer.score", false]], "score() (gpsea.analysis.pscore.devriesphenotypescorer method)": [[8, "gpsea.analysis.pscore.DeVriesPhenotypeScorer.score", false]], "score() (gpsea.analysis.pscore.measurementphenotypescorer method)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.score", false]], "score() (gpsea.analysis.pscore.phenotypescorer method)": [[8, "gpsea.analysis.pscore.PhenotypeScorer.score", false]], "sequence_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SEQUENCE_VARIANT", false]], "sex (class in gpsea.model)": [[15, "gpsea.model.Sex", false]], "sex (gpsea.model.patient property)": [[15, "gpsea.model.Patient.sex", false]], "sex_predicate() (in module gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.sex_predicate", false]], "significant_phenotype_indices() (gpsea.analysis.multiphenotypeanalysisresult method)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.significant_phenotype_indices", false]], "significant_phenotype_indices() (gpsea.analysis.pcats.multiphenotypeanalysisresult method)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.significant_phenotype_indices", false]], "single() (gpsea.model.genotypes static method)": [[15, "gpsea.model.Genotypes.single", false]], "skipping_general_term (gpsea.analysis.mtc_filter.hpomtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.SKIPPING_GENERAL_TERM", false]], "skipping_non_phenotype_term (gpsea.analysis.mtc_filter.hpomtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.SKIPPING_NON_PHENOTYPE_TERM", false]], "skipping_since_one_genotype_had_zero_observations (gpsea.analysis.mtc_filter.hpomtcfilter attribute)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.SKIPPING_SINCE_ONE_GENOTYPE_HAD_ZERO_OBSERVATIONS", false]], "snv (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.SNV", false]], "some_cell_has_greater_than_one_count() (gpsea.analysis.mtc_filter.hpomtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.HpoMtcFilter.some_cell_has_greater_than_one_count", false]], "specifiedtermsmtcfilter (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter", false]], "splice_acceptor_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_ACCEPTOR_VARIANT", false]], "splice_donor_5th_base_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_DONOR_5TH_BASE_VARIANT", false]], "splice_donor_region_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_DONOR_REGION_VARIANT", false]], "splice_donor_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_DONOR_VARIANT", false]], "splice_polypyrimidine_tract_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_POLYPYRIMIDINE_TRACT_VARIANT", false]], "splice_region_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SPLICE_REGION_VARIANT", false]], "start (gpsea.model.featureinfo property)": [[15, "gpsea.model.FeatureInfo.start", false]], "start (gpsea.model.genome.region property)": [[16, "gpsea.model.genome.Region.start", false]], "start (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.start", false]], "start_lost (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.START_LOST", false]], "start_on_strand() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.start_on_strand", false]], "start_retained_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.START_RETAINED_VARIANT", false]], "statistic (gpsea.analysis.analysisresult property)": [[1, "gpsea.analysis.AnalysisResult.statistic", false]], "status (class in gpsea.model)": [[15, "gpsea.model.Status", false]], "status (gpsea.model.vitalstatus attribute)": [[15, "gpsea.model.VitalStatus.status", false]], "stop_gained (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.STOP_GAINED", false]], "stop_lost (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.STOP_LOST", false]], "stop_retained_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.STOP_RETAINED_VARIANT", false]], "store_annotations() (gpsea.preprocessing.proteinannotationcache method)": [[17, "gpsea.preprocessing.ProteinAnnotationCache.store_annotations", false]], "store_annotations() (gpsea.preprocessing.variantannotationcache method)": [[17, "gpsea.preprocessing.VariantAnnotationCache.store_annotations", false]], "strand (class in gpsea.model.genome)": [[16, "gpsea.model.genome.Strand", false]], "strand (gpsea.model.genome.genomicregion property)": [[16, "gpsea.model.genome.GenomicRegion.strand", false]], "strand (gpsea.model.genome.stranded property)": [[16, "gpsea.model.genome.Stranded.strand", false]], "stranded (class in gpsea.model.genome)": [[16, "gpsea.model.genome.Stranded", false]], "structural_so_id_to_display() (gpsea.model.varianteffect static method)": [[15, "gpsea.model.VariantEffect.structural_so_id_to_display", false]], "structural_type (gpsea.model.imprecisesvinfo property)": [[15, "gpsea.model.ImpreciseSvInfo.structural_type", false]], "structural_type() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.structural_type", false]], "summarize() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.summarize", false]], "summarize() (gpsea.preprocessing.preprocessingvalidationresult method)": [[17, "gpsea.preprocessing.PreprocessingValidationResult.summarize", false]], "summarize_groups() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.summarize_groups", false]], "summarize_hpo_analysis() (in module gpsea.view)": [[19, "gpsea.view.summarize_hpo_analysis", false]], "supports_shape (gpsea.analysis.pcats.stats.countstatistic property)": [[4, "gpsea.analysis.pcats.stats.CountStatistic.supports_shape", false]], "supports_shape (gpsea.analysis.pcats.stats.fisherexacttest property)": [[4, "gpsea.analysis.pcats.stats.FisherExactTest.supports_shape", false]], "survival (class in gpsea.analysis.temporal)": [[10, "gpsea.analysis.temporal.Survival", false]], "survivalanalysis (class in gpsea.analysis.temporal)": [[10, "gpsea.analysis.temporal.SurvivalAnalysis", false]], "survivalanalysisresult (class in gpsea.analysis.temporal)": [[10, "gpsea.analysis.temporal.SurvivalAnalysisResult", false]], "survivalstatistic (class in gpsea.analysis.temporal.stats)": [[12, "gpsea.analysis.temporal.stats.SurvivalStatistic", false]], "sv_info (gpsea.model.variantinfo property)": [[15, "gpsea.model.VariantInfo.sv_info", false]], "symbol (gpsea.model.genome.strand property)": [[16, "gpsea.model.genome.Strand.symbol", false]], "synonymous_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.SYNONYMOUS_VARIANT", false]], "term_id (gpsea.analysis.pscore.measurementphenotypescorer property)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.term_id", false]], "terms_to_test (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter property)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.terms_to_test", false]], "test() (gpsea.analysis.predicate.genotype.variantpredicate method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicate.test", false]], "test() (gpsea.analysis.predicate.phenotype.diseasepresencepredicate method)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.test", false]], "test() (gpsea.analysis.predicate.phenotype.hpopredicate method)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.test", false]], "test() (gpsea.analysis.predicate.polypredicate method)": [[5, "gpsea.analysis.predicate.PolyPredicate.test", false]], "test_result (gpsea.model.measurement property)": [[15, "gpsea.model.Measurement.test_result", false]], "tf_binding_site_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.TF_BINDING_SITE_VARIANT", false]], "tfbs_ablation (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.TFBS_ABLATION", false]], "tfbs_amplification (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.TFBS_AMPLIFICATION", false]], "three_prime_utr_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.THREE_PRIME_UTR_VARIANT", false]], "timeline (class in gpsea.model)": [[15, "gpsea.model.Timeline", false]], "timeline (gpsea.model.age property)": [[15, "gpsea.model.Age.timeline", false]], "to_display() (gpsea.model.varianteffect method)": [[15, "gpsea.model.VariantEffect.to_display", false]], "to_negative_strand() (gpsea.model.genome.transposable method)": [[16, "gpsea.model.genome.Transposable.to_negative_strand", false]], "to_opposite_strand() (gpsea.model.genome.transposable method)": [[16, "gpsea.model.genome.Transposable.to_opposite_strand", false]], "to_positive_strand() (gpsea.model.genome.transposable method)": [[16, "gpsea.model.genome.Transposable.to_positive_strand", false]], "to_string() (gpsea.model.proteinfeature method)": [[15, "gpsea.model.ProteinFeature.to_string", false]], "total_patient_count (gpsea.model.cohort property)": [[15, "gpsea.model.Cohort.total_patient_count", false]], "total_tests (gpsea.analysis.multiphenotypeanalysisresult property)": [[1, "gpsea.analysis.MultiPhenotypeAnalysisResult.total_tests", false]], "total_tests (gpsea.analysis.pcats.multiphenotypeanalysisresult property)": [[3, "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult.total_tests", false]], "transcript() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.transcript", false]], "transcript_ablation (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.TRANSCRIPT_ABLATION", false]], "transcript_amplification (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.TRANSCRIPT_AMPLIFICATION", false]], "transcript_coordinates (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.transcript_coordinates", false]], "transcript_id (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.transcript_id", false]], "transcript_id (gpsea.model.transcriptinfoaware property)": [[15, "gpsea.model.TranscriptInfoAware.transcript_id", false]], "transcript_id (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.transcript_id", false]], "transcriptannotation (class in gpsea.model)": [[15, "gpsea.model.TranscriptAnnotation", false]], "transcriptcoordinates (class in gpsea.model)": [[15, "gpsea.model.TranscriptCoordinates", false]], "transcriptcoordinateservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.TranscriptCoordinateService", false]], "transcriptinfoaware (class in gpsea.model)": [[15, "gpsea.model.TranscriptInfoAware", false]], "translocation (gpsea.model.variantclass attribute)": [[15, "gpsea.model.VariantClass.TRANSLOCATION", false]], "transposable (class in gpsea.model.genome)": [[16, "gpsea.model.genome.Transposable", false]], "transpose_coordinate() (in module gpsea.model.genome)": [[16, "gpsea.model.genome.transpose_coordinate", false]], "true() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.true", false]], "tteststatistic (class in gpsea.analysis.pscore.stats)": [[9, "gpsea.analysis.pscore.stats.TTestStatistic", false]], "tx_annotations (gpsea.model.functionalannotationaware property)": [[15, "gpsea.model.FunctionalAnnotationAware.tx_annotations", false]], "tx_annotations (gpsea.model.variant property)": [[15, "gpsea.model.Variant.tx_annotations", false]], "ucsc_name (gpsea.model.genome.contig property)": [[16, "gpsea.model.genome.Contig.ucsc_name", false]], "uniprotproteinmetadataservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.UniprotProteinMetadataService", false]], "unit (gpsea.model.measurement property)": [[15, "gpsea.model.Measurement.unit", false]], "unknown (gpsea.model.status attribute)": [[15, "gpsea.model.Status.UNKNOWN", false]], "unknown_sex (gpsea.model.sex attribute)": [[15, "gpsea.model.Sex.UNKNOWN_SEX", false]], "upstream_gene_variant (gpsea.model.varianteffect attribute)": [[15, "gpsea.model.VariantEffect.UPSTREAM_GENE_VARIANT", false]], "usealltermsmtcfilter (class in gpsea.analysis.mtc_filter)": [[2, "gpsea.analysis.mtc_filter.UseAllTermsMtcFilter", false]], "value (gpsea.analysis.temporal.survival attribute)": [[10, "gpsea.analysis.temporal.Survival.value", false]], "varcachingfunctionalannotator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VarCachingFunctionalAnnotator", false]], "variable_name (gpsea.analysis.predicate.phenotype.diseasepresencepredicate property)": [[7, "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate.variable_name", false]], "variable_name (gpsea.analysis.predicate.phenotype.hpopredicate property)": [[7, "gpsea.analysis.predicate.phenotype.HpoPredicate.variable_name", false]], "variable_name (gpsea.analysis.pscore.countingphenotypescorer property)": [[8, "gpsea.analysis.pscore.CountingPhenotypeScorer.variable_name", false]], "variable_name (gpsea.analysis.pscore.devriesphenotypescorer property)": [[8, "gpsea.analysis.pscore.DeVriesPhenotypeScorer.variable_name", false]], "variable_name (gpsea.analysis.pscore.measurementphenotypescorer property)": [[8, "gpsea.analysis.pscore.MeasurementPhenotypeScorer.variable_name", false]], "variant (class in gpsea.model)": [[15, "gpsea.model.Variant", false]], "variant_class (gpsea.model.imprecisesvinfo property)": [[15, "gpsea.model.ImpreciseSvInfo.variant_class", false]], "variant_class (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.variant_class", false]], "variant_class (gpsea.model.variantinfo property)": [[15, "gpsea.model.VariantInfo.variant_class", false]], "variant_class() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.variant_class", false]], "variant_coordinates (gpsea.model.variantinfo property)": [[15, "gpsea.model.VariantInfo.variant_coordinates", false]], "variant_effect() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.variant_effect", false]], "variant_effect_count_by_tx() (gpsea.model.cohort method)": [[15, "gpsea.model.Cohort.variant_effect_count_by_tx", false]], "variant_effects (gpsea.model.transcriptannotation property)": [[15, "gpsea.model.TranscriptAnnotation.variant_effects", false]], "variant_effects (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.variant_effects", false]], "variant_info (gpsea.model.variant property)": [[15, "gpsea.model.Variant.variant_info", false]], "variant_info (gpsea.model.variantinfoaware property)": [[15, "gpsea.model.VariantInfoAware.variant_info", false]], "variant_key (gpsea.model.imprecisesvinfo property)": [[15, "gpsea.model.ImpreciseSvInfo.variant_key", false]], "variant_key (gpsea.model.variantcoordinates property)": [[15, "gpsea.model.VariantCoordinates.variant_key", false]], "variant_key (gpsea.model.variantinfo property)": [[15, "gpsea.model.VariantInfo.variant_key", false]], "variant_key() (gpsea.analysis.predicate.genotype.variantpredicates static method)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates.variant_key", false]], "variant_locations (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.variant_locations", false]], "variant_locations_counted_absolute (gpsea.view.proteinvisualizable property)": [[19, "gpsea.view.ProteinVisualizable.variant_locations_counted_absolute", false]], "variantannotationcache (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VariantAnnotationCache", false]], "variantclass (class in gpsea.model)": [[15, "gpsea.model.VariantClass", false]], "variantcoordinatefinder (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VariantCoordinateFinder", false]], "variantcoordinates (class in gpsea.model)": [[15, "gpsea.model.VariantCoordinates", false]], "varianteffect (class in gpsea.model)": [[15, "gpsea.model.VariantEffect", false]], "variantformatter (class in gpsea.view)": [[19, "gpsea.view.VariantFormatter", false]], "variantinfo (class in gpsea.model)": [[15, "gpsea.model.VariantInfo", false]], "variantinfoaware (class in gpsea.model)": [[15, "gpsea.model.VariantInfoAware", false]], "variantpredicate (class in gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicate", false]], "variantpredicates (class in gpsea.analysis.predicate.genotype)": [[6, "gpsea.analysis.predicate.genotype.VariantPredicates", false]], "variants (gpsea.model.patient property)": [[15, "gpsea.model.Patient.variants", false]], "varianttranscriptvisualizer (class in gpsea.view)": [[19, "gpsea.view.VariantTranscriptVisualizer", false]], "vepfunctionalannotator (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VepFunctionalAnnotator", false]], "verify_term_id() (gpsea.analysis.mtc_filter.specifiedtermsmtcfilter static method)": [[2, "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter.verify_term_id", false]], "vital_status (gpsea.model.patient property)": [[15, "gpsea.model.Patient.vital_status", false]], "vitalstatus (class in gpsea.model)": [[15, "gpsea.model.VitalStatus", false]], "vvhgvsvariantcoordinatefinder (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VVHgvsVariantCoordinateFinder", false]], "vvmulticoordinateservice (class in gpsea.preprocessing)": [[17, "gpsea.preprocessing.VVMultiCoordinateService", false]], "with_cache_folder() (gpsea.preprocessing.varcachingfunctionalannotator static method)": [[17, "gpsea.preprocessing.VarCachingFunctionalAnnotator.with_cache_folder", false]], "with_strand() (gpsea.model.genome.genomicregion method)": [[16, "gpsea.model.genome.GenomicRegion.with_strand", false]], "with_strand() (gpsea.model.genome.transposable method)": [[16, "gpsea.model.genome.Transposable.with_strand", false]], "wrap_scoring_function() (gpsea.analysis.pscore.phenotypescorer static method)": [[8, "gpsea.analysis.pscore.PhenotypeScorer.wrap_scoring_function", false]], "write() (gpsea.view.gpseareport method)": [[19, "gpsea.view.GpseaReport.write", false]]}, "objects": {"": [[0, 0, 0, "-", "gpsea"]], "gpsea": [[1, 0, 0, "-", "analysis"], [13, 0, 0, "-", "config"], [14, 0, 0, "-", "io"], [15, 0, 0, "-", "model"], [17, 0, 0, "-", "preprocessing"], [18, 0, 0, "-", "util"], [19, 0, 0, "-", "view"]], "gpsea.analysis": [[1, 1, 1, "", "AnalysisResult"], [1, 1, 1, "", "MonoPhenotypeAnalysisResult"], [1, 1, 1, "", "MultiPhenotypeAnalysisResult"], [2, 0, 0, "-", "mtc_filter"], [3, 0, 0, "-", "pcats"], [5, 0, 0, "-", "predicate"], [8, 0, 0, "-", "pscore"], [10, 0, 0, "-", "temporal"]], "gpsea.analysis.AnalysisResult": [[1, 2, 1, "", "gt_predicate"], [1, 2, 1, "", "statistic"]], "gpsea.analysis.MonoPhenotypeAnalysisResult": [[1, 3, 1, "", "DATA_COLUMNS"], [1, 3, 1, "", "GT_COL"], [1, 3, 1, "", "PH_COL"], [1, 4, 1, "", "complete_records"], [1, 2, 1, "", "data"], [1, 2, 1, "", "phenotype"], [1, 2, 1, "", "pval"]], "gpsea.analysis.MultiPhenotypeAnalysisResult": [[1, 2, 1, "", "all_counts"], [1, 2, 1, "", "corrected_pvals"], [1, 2, 1, "", "mtc_correction"], [1, 4, 1, "", "n_significant_for_alpha"], [1, 2, 1, "", "n_usable"], [1, 2, 1, "", "pheno_predicates"], [1, 2, 1, "", "phenotypes"], [1, 2, 1, "", "pvals"], [1, 4, 1, "", "significant_phenotype_indices"], [1, 2, 1, "", "total_tests"]], "gpsea.analysis.mtc_filter": [[2, 1, 1, "", "HpoMtcFilter"], [2, 1, 1, "", "PhenotypeMtcFilter"], [2, 1, 1, "", "PhenotypeMtcIssue"], [2, 1, 1, "", "PhenotypeMtcResult"], [2, 1, 1, "", "SpecifiedTermsMtcFilter"], [2, 1, 1, "", "UseAllTermsMtcFilter"]], "gpsea.analysis.mtc_filter.HpoMtcFilter": [[2, 3, 1, "", "NO_GENOTYPE_HAS_MORE_THAN_ONE_HPO"], [2, 3, 1, "", "SAME_COUNT_AS_THE_ONLY_CHILD"], [2, 3, 1, "", "SKIPPING_GENERAL_TERM"], [2, 3, 1, "", "SKIPPING_NON_PHENOTYPE_TERM"], [2, 3, 1, "", "SKIPPING_SINCE_ONE_GENOTYPE_HAD_ZERO_OBSERVATIONS"], [2, 4, 1, "", "default_filter"], [2, 4, 1, "", "filter"], [2, 4, 1, "", "filter_method_name"], [2, 4, 1, "", "get_maximum_group_observed_HPO_frequency"], [2, 4, 1, "", "get_number_of_observed_hpo_observations"], [2, 4, 1, "", "one_genotype_has_zero_hpo_observations"], [2, 4, 1, "", "possible_results"], [2, 4, 1, "", "some_cell_has_greater_than_one_count"]], "gpsea.analysis.mtc_filter.PhenotypeMtcFilter": [[2, 3, 1, "", "OK"], [2, 4, 1, "", "filter"], [2, 4, 1, "", "filter_method_name"], [2, 4, 1, "", "possible_results"]], "gpsea.analysis.mtc_filter.PhenotypeMtcIssue": [[2, 3, 1, "", "code"], [2, 3, 1, "", "reason"]], "gpsea.analysis.mtc_filter.PhenotypeMtcResult": [[2, 4, 1, "", "fail"], [2, 4, 1, "", "is_filtered_out"], [2, 4, 1, "", "is_passed"], [2, 2, 1, "", "mtc_issue"], [2, 4, 1, "", "ok"], [2, 2, 1, "", "reason"]], "gpsea.analysis.mtc_filter.SpecifiedTermsMtcFilter": [[2, 3, 1, "", "NON_SPECIFIED_TERM"], [2, 4, 1, "", "filter"], [2, 4, 1, "", "filter_method_name"], [2, 4, 1, "", "possible_results"], [2, 2, 1, "", "terms_to_test"], [2, 4, 1, "", "verify_term_id"]], "gpsea.analysis.mtc_filter.UseAllTermsMtcFilter": [[2, 4, 1, "", "filter"], [2, 4, 1, "", "filter_method_name"], [2, 4, 1, "", "possible_results"]], "gpsea.analysis.pcats": [[3, 1, 1, "", "DiseaseAnalysis"], [3, 1, 1, "", "HpoTermAnalysis"], [3, 1, 1, "", "HpoTermAnalysisResult"], [3, 1, 1, "", "MultiPhenotypeAnalysis"], [3, 1, 1, "", "MultiPhenotypeAnalysisResult"], [3, 5, 1, "", "apply_predicates_on_patients"], [3, 5, 1, "", "configure_hpo_term_analysis"], [4, 0, 0, "-", "stats"]], "gpsea.analysis.pcats.HpoTermAnalysisResult": [[3, 2, 1, "", "mtc_filter_name"], [3, 2, 1, "", "mtc_filter_results"], [3, 4, 1, "", "n_filtered_out"]], "gpsea.analysis.pcats.MultiPhenotypeAnalysis": [[3, 4, 1, "", "compare_genotype_vs_phenotypes"]], "gpsea.analysis.pcats.MultiPhenotypeAnalysisResult": [[3, 2, 1, "", "all_counts"], [3, 2, 1, "", "corrected_pvals"], [3, 2, 1, "", "mtc_correction"], [3, 4, 1, "", "n_significant_for_alpha"], [3, 2, 1, "", "n_usable"], [3, 2, 1, "", "pheno_predicates"], [3, 2, 1, "", "phenotypes"], [3, 2, 1, "", "pvals"], [3, 4, 1, "", "significant_phenotype_indices"], [3, 2, 1, "", "total_tests"]], "gpsea.analysis.pcats.stats": [[4, 1, 1, "", "CountStatistic"], [4, 1, 1, "", "FisherExactTest"]], "gpsea.analysis.pcats.stats.CountStatistic": [[4, 4, 1, "", "compute_pval"], [4, 2, 1, "", "supports_shape"]], "gpsea.analysis.pcats.stats.FisherExactTest": [[4, 4, 1, "", "compute_pval"], [4, 2, 1, "", "supports_shape"]], "gpsea.analysis.predicate": [[5, 1, 1, "", "PolyPredicate"], [6, 0, 0, "-", "genotype"], [7, 0, 0, "-", "phenotype"]], "gpsea.analysis.predicate.PolyPredicate": [[5, 4, 1, "", "get_categories"], [5, 4, 1, "", "get_categorizations"], [5, 4, 1, "", "get_category"], [5, 4, 1, "", "get_category_name"], [5, 2, 1, "", "group_labels"], [5, 4, 1, "", "n_categorizations"], [5, 4, 1, "", "summarize"], [5, 4, 1, "", "summarize_groups"], [5, 4, 1, "", "test"]], "gpsea.analysis.predicate.genotype": [[6, 1, 1, "", "AlleleCounter"], [6, 1, 1, "", "GenotypePolyPredicate"], [6, 1, 1, "", "VariantPredicate"], [6, 1, 1, "", "VariantPredicates"], [6, 5, 1, "", "allele_count"], [6, 5, 1, "", "biallelic_predicate"], [6, 5, 1, "", "diagnosis_predicate"], [6, 5, 1, "", "monoallelic_predicate"], [6, 5, 1, "", "sex_predicate"]], "gpsea.analysis.predicate.genotype.AlleleCounter": [[6, 4, 1, "", "count"], [6, 4, 1, "", "get_question"]], "gpsea.analysis.predicate.genotype.VariantPredicate": [[6, 4, 1, "", "get_question"], [6, 4, 1, "", "test"]], "gpsea.analysis.predicate.genotype.VariantPredicates": [[6, 4, 1, "", "all"], [6, 4, 1, "", "any"], [6, 4, 1, "", "change_length"], [6, 4, 1, "", "exon"], [6, 4, 1, "", "gene"], [6, 4, 1, "", "is_large_imprecise_sv"], [6, 4, 1, "", "is_structural_deletion"], [6, 4, 1, "", "is_structural_variant"], [6, 4, 1, "", "protein_feature"], [6, 4, 1, "", "protein_feature_type"], [6, 4, 1, "", "ref_length"], [6, 4, 1, "", "region"], [6, 4, 1, "", "structural_type"], [6, 4, 1, "", "transcript"], [6, 4, 1, "", "true"], [6, 4, 1, "", "variant_class"], [6, 4, 1, "", "variant_effect"], [6, 4, 1, "", "variant_key"]], "gpsea.analysis.predicate.phenotype": [[7, 1, 1, "", "DiseasePresencePredicate"], [7, 1, 1, "", "HpoPredicate"], [7, 1, 1, "", "PhenotypeCategorization"], [7, 1, 1, "", "PhenotypePolyPredicate"], [7, 5, 1, "", "prepare_hpo_terms_of_interest"], [7, 5, 1, "", "prepare_predicates_for_terms_of_interest"]], "gpsea.analysis.predicate.phenotype.DiseasePresencePredicate": [[7, 2, 1, "", "description"], [7, 4, 1, "", "get_categorizations"], [7, 2, 1, "", "name"], [7, 2, 1, "", "phenotype"], [7, 2, 1, "", "present_phenotype_categorization"], [7, 4, 1, "", "test"], [7, 2, 1, "", "variable_name"]], "gpsea.analysis.predicate.phenotype.HpoPredicate": [[7, 2, 1, "", "description"], [7, 4, 1, "", "get_categorizations"], [7, 2, 1, "", "name"], [7, 2, 1, "", "phenotype"], [7, 2, 1, "", "present_phenotype_categorization"], [7, 4, 1, "", "test"], [7, 2, 1, "", "variable_name"]], "gpsea.analysis.predicate.phenotype.PhenotypeCategorization": [[7, 2, 1, "", "phenotype"]], "gpsea.analysis.predicate.phenotype.PhenotypePolyPredicate": [[7, 2, 1, "", "phenotype"], [7, 2, 1, "", "present_phenotype_categorization"], [7, 2, 1, "", "present_phenotype_category"]], "gpsea.analysis.pscore": [[8, 1, 1, "", "CountingPhenotypeScorer"], [8, 1, 1, "", "DeVriesPhenotypeScorer"], [8, 1, 1, "", "MeasurementPhenotypeScorer"], [8, 1, 1, "", "PhenotypeScoreAnalysis"], [8, 1, 1, "", "PhenotypeScoreAnalysisResult"], [8, 1, 1, "", "PhenotypeScorer"], [9, 0, 0, "-", "stats"]], "gpsea.analysis.pscore.CountingPhenotypeScorer": [[8, 2, 1, "", "description"], [8, 4, 1, "", "from_query_curies"], [8, 2, 1, "", "name"], [8, 4, 1, "", "score"], [8, 2, 1, "", "variable_name"]], "gpsea.analysis.pscore.DeVriesPhenotypeScorer": [[8, 2, 1, "", "description"], [8, 2, 1, "", "name"], [8, 4, 1, "", "score"], [8, 2, 1, "", "variable_name"]], "gpsea.analysis.pscore.MeasurementPhenotypeScorer": [[8, 2, 1, "", "description"], [8, 4, 1, "", "from_measurement_id"], [8, 2, 1, "", "label"], [8, 2, 1, "", "name"], [8, 4, 1, "", "score"], [8, 2, 1, "", "term_id"], [8, 2, 1, "", "variable_name"]], "gpsea.analysis.pscore.PhenotypeScoreAnalysis": [[8, 4, 1, "", "compare_genotype_vs_phenotype_score"]], "gpsea.analysis.pscore.PhenotypeScoreAnalysisResult": [[8, 4, 1, "", "phenotype_scorer"], [8, 4, 1, "", "plot_boxplots"]], "gpsea.analysis.pscore.PhenotypeScorer": [[8, 4, 1, "", "score"], [8, 4, 1, "", "wrap_scoring_function"]], "gpsea.analysis.pscore.stats": [[9, 1, 1, "", "MannWhitneyStatistic"], [9, 1, 1, "", "PhenotypeScoreStatistic"], [9, 1, 1, "", "TTestStatistic"]], "gpsea.analysis.pscore.stats.MannWhitneyStatistic": [[9, 4, 1, "", "compute_pval"]], "gpsea.analysis.pscore.stats.PhenotypeScoreStatistic": [[9, 4, 1, "", "compute_pval"]], "gpsea.analysis.pscore.stats.TTestStatistic": [[9, 4, 1, "", "compute_pval"]], "gpsea.analysis.temporal": [[10, 1, 1, "", "Endpoint"], [10, 1, 1, "", "Survival"], [10, 1, 1, "", "SurvivalAnalysis"], [10, 1, 1, "", "SurvivalAnalysisResult"], [11, 0, 0, "-", "endpoint"], [12, 0, 0, "-", "stats"]], "gpsea.analysis.temporal.Endpoint": [[10, 4, 1, "", "compute_survival"]], "gpsea.analysis.temporal.Survival": [[10, 3, 1, "", "is_censored"], [10, 3, 1, "", "value"]], "gpsea.analysis.temporal.SurvivalAnalysis": [[10, 4, 1, "", "compare_genotype_vs_survival"]], "gpsea.analysis.temporal.SurvivalAnalysisResult": [[10, 2, 1, "", "endpoint"], [10, 4, 1, "", "plot_kaplan_meier_curves"]], "gpsea.analysis.temporal.endpoint": [[11, 5, 1, "", "death"], [11, 5, 1, "", "disease_onset"], [11, 5, 1, "", "hpo_onset"]], "gpsea.analysis.temporal.stats": [[12, 1, 1, "", "LogRankTest"], [12, 1, 1, "", "SurvivalStatistic"]], "gpsea.analysis.temporal.stats.LogRankTest": [[12, 4, 1, "", "compute_pval"]], "gpsea.analysis.temporal.stats.SurvivalStatistic": [[12, 4, 1, "", "compute_pval"]], "gpsea.config": [[13, 6, 1, "", "CACHE_ENV"], [13, 6, 1, "", "DEFAULT_CACHE_PATH"], [13, 5, 1, "", "get_cache_dir_path"]], "gpsea.io": [[14, 1, 1, "", "GpseaJSONDecoder"], [14, 1, 1, "", "GpseaJSONEncoder"]], "gpsea.io.GpseaJSONDecoder": [[14, 4, 1, "", "object_hook"]], "gpsea.io.GpseaJSONEncoder": [[14, 4, 1, "", "default"]], "gpsea.model": [[15, 1, 1, "", "Age"], [15, 1, 1, "", "Cohort"], [15, 1, 1, "", "Disease"], [15, 1, 1, "", "FeatureInfo"], [15, 1, 1, "", "FeatureType"], [15, 1, 1, "", "FunctionalAnnotationAware"], [15, 1, 1, "", "Genotype"], [15, 1, 1, "", "Genotyped"], [15, 1, 1, "", "Genotypes"], [15, 1, 1, "", "ImpreciseSvInfo"], [15, 1, 1, "", "Measurement"], [15, 1, 1, "", "Patient"], [15, 1, 1, "", "Phenotype"], [15, 1, 1, "", "ProteinFeature"], [15, 1, 1, "", "ProteinMetadata"], [15, 1, 1, "", "SampleLabels"], [15, 1, 1, "", "Sex"], [15, 1, 1, "", "Status"], [15, 1, 1, "", "Timeline"], [15, 1, 1, "", "TranscriptAnnotation"], [15, 1, 1, "", "TranscriptCoordinates"], [15, 1, 1, "", "TranscriptInfoAware"], [15, 1, 1, "", "Variant"], [15, 1, 1, "", "VariantClass"], [15, 1, 1, "", "VariantCoordinates"], [15, 1, 1, "", "VariantEffect"], [15, 1, 1, "", "VariantInfo"], [15, 1, 1, "", "VariantInfoAware"], [15, 1, 1, "", "VitalStatus"], [16, 0, 0, "-", "genome"]], "gpsea.model.Age": [[15, 3, 1, "", "DAYS_IN_MONTH"], [15, 3, 1, "", "DAYS_IN_WEEK"], [15, 3, 1, "", "DAYS_IN_YEAR"], [15, 3, 1, "", "ISO8601PT"], [15, 4, 1, "", "birth"], [15, 2, 1, "", "days"], [15, 4, 1, "", "from_iso8601_period"], [15, 4, 1, "", "gestational"], [15, 4, 1, "", "gestational_days"], [15, 2, 1, "", "is_gestational"], [15, 2, 1, "", "is_postnatal"], [15, 4, 1, "", "last_menstrual_period"], [15, 4, 1, "", "postnatal"], [15, 4, 1, "", "postnatal_days"], [15, 4, 1, "", "postnatal_years"], [15, 2, 1, "", "timeline"]], "gpsea.model.Cohort": [[15, 4, 1, "", "all_diseases"], [15, 4, 1, "", "all_measurements"], [15, 2, 1, "", "all_patients"], [15, 4, 1, "", "all_phenotypes"], [15, 2, 1, "", "all_transcript_ids"], [15, 4, 1, "", "all_variant_infos"], [15, 4, 1, "", "all_variants"], [15, 4, 1, "", "count_alive"], [15, 4, 1, "", "count_deceased"], [15, 4, 1, "", "count_distinct_hpo_terms"], [15, 4, 1, "", "count_females"], [15, 4, 1, "", "count_males"], [15, 4, 1, "", "count_unknown_sex"], [15, 4, 1, "", "count_unknown_vital_status"], [15, 4, 1, "", "count_with_age_of_last_encounter"], [15, 4, 1, "", "count_with_disease_onset"], [15, 4, 1, "", "from_patients"], [15, 4, 1, "", "get_excluded_count"], [15, 4, 1, "", "get_patient_ids"], [15, 4, 1, "", "get_variant_by_key"], [15, 4, 1, "", "list_all_diseases"], [15, 4, 1, "", "list_all_proteins"], [15, 4, 1, "", "list_all_variants"], [15, 4, 1, "", "list_measurements"], [15, 4, 1, "", "list_present_phenotypes"], [15, 2, 1, "", "total_patient_count"], [15, 4, 1, "", "variant_effect_count_by_tx"]], "gpsea.model.Disease": [[15, 4, 1, "", "from_raw_parts"], [15, 2, 1, "", "identifier"], [15, 2, 1, "", "is_present"], [15, 2, 1, "", "name"], [15, 2, 1, "", "onset"]], "gpsea.model.FeatureInfo": [[15, 2, 1, "", "end"], [15, 2, 1, "", "name"], [15, 4, 1, "", "overlaps_with"], [15, 2, 1, "", "region"], [15, 2, 1, "", "start"]], "gpsea.model.FeatureType": [[15, 3, 1, "", "COILED_COIL"], [15, 3, 1, "", "COMPOSITIONAL_BIAS"], [15, 3, 1, "", "DOMAIN"], [15, 3, 1, "", "MOTIF"], [15, 3, 1, "", "REGION"], [15, 3, 1, "", "REPEAT"], [15, 4, 1, "", "from_string"]], "gpsea.model.FunctionalAnnotationAware": [[15, 4, 1, "", "get_hgvs_cdna_by_tx_id"], [15, 4, 1, "", "get_preferred_tx_annotation"], [15, 4, 1, "", "get_tx_anno_by_tx_id"], [15, 2, 1, "", "tx_annotations"]], "gpsea.model.Genotype": [[15, 3, 1, "", "HEMIZYGOUS"], [15, 3, 1, "", "HETEROZYGOUS"], [15, 3, 1, "", "HOMOZYGOUS_ALTERNATE"], [15, 3, 1, "", "HOMOZYGOUS_REFERENCE"], [15, 3, 1, "", "NO_CALL"], [15, 2, 1, "", "code"]], "gpsea.model.Genotyped": [[15, 4, 1, "", "genotype_for_sample"], [15, 2, 1, "", "genotypes"]], "gpsea.model.Genotypes": [[15, 4, 1, "", "empty"], [15, 4, 1, "", "for_sample"], [15, 4, 1, "", "from_mapping"], [15, 4, 1, "", "single"]], "gpsea.model.ImpreciseSvInfo": [[15, 2, 1, "", "gene_id"], [15, 2, 1, "", "gene_symbol"], [15, 2, 1, "", "structural_type"], [15, 2, 1, "", "variant_class"], [15, 2, 1, "", "variant_key"]], "gpsea.model.Measurement": [[15, 2, 1, "", "identifier"], [15, 2, 1, "", "name"], [15, 2, 1, "", "test_result"], [15, 2, 1, "", "unit"]], "gpsea.model.Patient": [[15, 2, 1, "", "age"], [15, 4, 1, "", "disease_by_id"], [15, 2, 1, "", "diseases"], [15, 4, 1, "", "excluded_diseases"], [15, 4, 1, "", "excluded_phenotypes"], [15, 4, 1, "", "from_raw_parts"], [15, 2, 1, "", "labels"], [15, 4, 1, "", "measurement_by_id"], [15, 2, 1, "", "measurements"], [15, 2, 1, "", "patient_id"], [15, 4, 1, "", "phenotype_by_id"], [15, 2, 1, "", "phenotypes"], [15, 4, 1, "", "present_diseases"], [15, 4, 1, "", "present_phenotypes"], [15, 2, 1, "", "sex"], [15, 2, 1, "", "variants"], [15, 2, 1, "", "vital_status"]], "gpsea.model.Phenotype": [[15, 4, 1, "", "from_raw_parts"], [15, 4, 1, "", "from_term"], [15, 2, 1, "", "identifier"], [15, 2, 1, "", "is_observed"], [15, 2, 1, "", "is_present"], [15, 2, 1, "", "observed"], [15, 2, 1, "", "onset"]], "gpsea.model.ProteinFeature": [[15, 4, 1, "", "create"], [15, 2, 1, "", "feature_type"], [15, 2, 1, "", "info"], [15, 4, 1, "", "to_string"]], "gpsea.model.ProteinMetadata": [[15, 4, 1, "", "domains"], [15, 4, 1, "", "from_feature_frame"], [15, 4, 1, "", "from_uniprot_json"], [15, 4, 1, "", "get_features_variant_overlaps"], [15, 2, 1, "", "label"], [15, 4, 1, "", "motifs"], [15, 2, 1, "", "protein_features"], [15, 2, 1, "", "protein_id"], [15, 2, 1, "", "protein_length"], [15, 4, 1, "", "regions"], [15, 4, 1, "", "repeats"]], "gpsea.model.SampleLabels": [[15, 2, 1, "", "label"], [15, 4, 1, "", "label_summary"], [15, 2, 1, "", "meta_label"]], "gpsea.model.Sex": [[15, 3, 1, "", "FEMALE"], [15, 3, 1, "", "MALE"], [15, 3, 1, "", "UNKNOWN_SEX"], [15, 4, 1, "", "is_female"], [15, 4, 1, "", "is_male"], [15, 4, 1, "", "is_provided"], [15, 4, 1, "", "is_unknown"]], "gpsea.model.Status": [[15, 3, 1, "", "ALIVE"], [15, 3, 1, "", "DECEASED"], [15, 3, 1, "", "UNKNOWN"]], "gpsea.model.Timeline": [[15, 3, 1, "", "GESTATIONAL"], [15, 3, 1, "", "POSTNATAL"]], "gpsea.model.TranscriptAnnotation": [[15, 2, 1, "", "gene_id"], [15, 2, 1, "", "hgvs_cdna"], [15, 2, 1, "", "hgvsp"], [15, 2, 1, "", "is_preferred"], [15, 2, 1, "", "overlapping_exons"], [15, 2, 1, "", "protein_effect_location"], [15, 2, 1, "", "protein_id"], [15, 2, 1, "", "transcript_id"], [15, 2, 1, "", "variant_effects"]], "gpsea.model.TranscriptCoordinates": [[15, 2, 1, "", "cds_end"], [15, 2, 1, "", "cds_start"], [15, 2, 1, "", "exons"], [15, 4, 1, "", "get_cds_regions"], [15, 4, 1, "", "get_coding_base_count"], [15, 4, 1, "", "get_codon_count"], [15, 4, 1, "", "get_five_prime_utrs"], [15, 4, 1, "", "get_three_prime_utrs"], [15, 2, 1, "", "identifier"], [15, 4, 1, "", "is_coding"], [15, 2, 1, "", "is_preferred"], [15, 2, 1, "", "region"]], "gpsea.model.TranscriptInfoAware": [[15, 2, 1, "", "gene_id"], [15, 2, 1, "", "transcript_id"]], "gpsea.model.Variant": [[15, 4, 1, "", "create_variant_from_scratch"], [15, 2, 1, "", "genotypes"], [15, 2, 1, "", "tx_annotations"], [15, 2, 1, "", "variant_info"]], "gpsea.model.VariantClass": [[15, 3, 1, "", "DEL"], [15, 3, 1, "", "DUP"], [15, 3, 1, "", "INS"], [15, 3, 1, "", "INV"], [15, 3, 1, "", "MNV"], [15, 3, 1, "", "SNV"], [15, 3, 1, "", "TRANSLOCATION"]], "gpsea.model.VariantCoordinates": [[15, 2, 1, "", "alt"], [15, 2, 1, "", "change_length"], [15, 2, 1, "", "chrom"], [15, 2, 1, "", "end"], [15, 4, 1, "", "from_vcf_literal"], [15, 4, 1, "", "from_vcf_symbolic"], [15, 4, 1, "", "is_structural"], [15, 2, 1, "", "ref"], [15, 2, 1, "", "region"], [15, 2, 1, "", "start"], [15, 2, 1, "", "variant_class"], [15, 2, 1, "", "variant_key"]], "gpsea.model.VariantEffect": [[15, 3, 1, "", "CODING_SEQUENCE_VARIANT"], [15, 3, 1, "", "DOWNSTREAM_GENE_VARIANT"], [15, 3, 1, "", "FEATURE_ELONGATION"], [15, 3, 1, "", "FEATURE_TRUNCATION"], [15, 3, 1, "", "FIVE_PRIME_UTR_VARIANT"], [15, 3, 1, "", "FRAMESHIFT_VARIANT"], [15, 3, 1, "", "INCOMPLETE_TERMINAL_CODON_VARIANT"], [15, 3, 1, "", "INFRAME_DELETION"], [15, 3, 1, "", "INFRAME_INSERTION"], [15, 3, 1, "", "INTERGENIC_VARIANT"], [15, 3, 1, "", "INTRON_VARIANT"], [15, 3, 1, "", "MATURE_MIRNA_VARIANT"], [15, 3, 1, "", "MISSENSE_VARIANT"], [15, 3, 1, "", "NMD_TRANSCRIPT_VARIANT"], [15, 3, 1, "", "NON_CODING_TRANSCRIPT_EXON_VARIANT"], [15, 3, 1, "", "NON_CODING_TRANSCRIPT_VARIANT"], [15, 3, 1, "", "PROTEIN_ALTERING_VARIANT"], [15, 3, 1, "", "REGULATORY_REGION_ABLATION"], [15, 3, 1, "", "REGULATORY_REGION_AMPLIFICATION"], [15, 3, 1, "", "REGULATORY_REGION_VARIANT"], [15, 3, 1, "", "SEQUENCE_VARIANT"], [15, 3, 1, "", "SPLICE_ACCEPTOR_VARIANT"], [15, 3, 1, "", "SPLICE_DONOR_5TH_BASE_VARIANT"], [15, 3, 1, "", "SPLICE_DONOR_REGION_VARIANT"], [15, 3, 1, "", "SPLICE_DONOR_VARIANT"], [15, 3, 1, "", "SPLICE_POLYPYRIMIDINE_TRACT_VARIANT"], [15, 3, 1, "", "SPLICE_REGION_VARIANT"], [15, 3, 1, "", "START_LOST"], [15, 3, 1, "", "START_RETAINED_VARIANT"], [15, 3, 1, "", "STOP_GAINED"], [15, 3, 1, "", "STOP_LOST"], [15, 3, 1, "", "STOP_RETAINED_VARIANT"], [15, 3, 1, "", "SYNONYMOUS_VARIANT"], [15, 3, 1, "", "TFBS_ABLATION"], [15, 3, 1, "", "TFBS_AMPLIFICATION"], [15, 3, 1, "", "TF_BINDING_SITE_VARIANT"], [15, 3, 1, "", "THREE_PRIME_UTR_VARIANT"], [15, 3, 1, "", "TRANSCRIPT_ABLATION"], [15, 3, 1, "", "TRANSCRIPT_AMPLIFICATION"], [15, 3, 1, "", "UPSTREAM_GENE_VARIANT"], [15, 2, 1, "", "curie"], [15, 4, 1, "", "structural_so_id_to_display"], [15, 4, 1, "", "to_display"]], "gpsea.model.VariantInfo": [[15, 4, 1, "", "has_sv_info"], [15, 4, 1, "", "has_variant_coordinates"], [15, 4, 1, "", "is_structural"], [15, 2, 1, "", "sv_info"], [15, 2, 1, "", "variant_class"], [15, 2, 1, "", "variant_coordinates"], [15, 2, 1, "", "variant_key"]], "gpsea.model.VariantInfoAware": [[15, 2, 1, "", "variant_info"]], "gpsea.model.VitalStatus": [[15, 3, 1, "", "age_of_death"], [15, 2, 1, "", "is_alive"], [15, 2, 1, "", "is_deceased"], [15, 2, 1, "", "is_unknown"], [15, 3, 1, "", "status"]], "gpsea.model.genome": [[16, 1, 1, "", "Contig"], [16, 1, 1, "", "GenomeBuild"], [16, 1, 1, "", "GenomeBuildIdentifier"], [16, 1, 1, "", "GenomicRegion"], [16, 1, 1, "", "Region"], [16, 1, 1, "", "Strand"], [16, 1, 1, "", "Stranded"], [16, 1, 1, "", "Transposable"], [16, 5, 1, "", "transpose_coordinate"]], "gpsea.model.genome.Contig": [[16, 2, 1, "", "genbank_acc"], [16, 2, 1, "", "name"], [16, 2, 1, "", "refseq_name"], [16, 2, 1, "", "ucsc_name"]], "gpsea.model.genome.GenomeBuild": [[16, 4, 1, "", "contig_by_name"], [16, 2, 1, "", "contigs"], [16, 2, 1, "", "genome_build_id"], [16, 2, 1, "", "identifier"]], "gpsea.model.genome.GenomeBuildIdentifier": [[16, 2, 1, "", "identifier"], [16, 2, 1, "", "major_assembly"], [16, 2, 1, "", "patch"]], "gpsea.model.genome.GenomicRegion": [[16, 4, 1, "", "contains"], [16, 2, 1, "", "contig"], [16, 4, 1, "", "distance_to"], [16, 4, 1, "", "end_on_strand"], [16, 4, 1, "", "overlaps_with"], [16, 4, 1, "", "start_on_strand"], [16, 2, 1, "", "strand"], [16, 4, 1, "", "with_strand"]], "gpsea.model.genome.Region": [[16, 4, 1, "", "contains"], [16, 4, 1, "", "contains_pos"], [16, 4, 1, "", "distance_to"], [16, 2, 1, "", "end"], [16, 4, 1, "", "is_empty"], [16, 4, 1, "", "overlaps_with"], [16, 2, 1, "", "start"]], "gpsea.model.genome.Strand": [[16, 3, 1, "", "NEGATIVE"], [16, 3, 1, "", "POSITIVE"], [16, 4, 1, "", "is_negative"], [16, 4, 1, "", "is_positive"], [16, 4, 1, "", "opposite"], [16, 2, 1, "", "symbol"]], "gpsea.model.genome.Stranded": [[16, 2, 1, "", "strand"]], "gpsea.model.genome.Transposable": [[16, 4, 1, "", "to_negative_strand"], [16, 4, 1, "", "to_opposite_strand"], [16, 4, 1, "", "to_positive_strand"], [16, 4, 1, "", "with_strand"]], "gpsea.preprocessing": [[17, 1, 1, "", "CohortCreator"], [17, 1, 1, "", "DefaultImpreciseSvFunctionalAnnotator"], [17, 1, 1, "", "FunctionalAnnotator"], [17, 1, 1, "", "GeneCoordinateService"], [17, 1, 1, "", "ImpreciseSvFunctionalAnnotator"], [17, 1, 1, "", "PatientCreator"], [17, 1, 1, "", "PhenopacketOntologyTermOnsetParser"], [17, 1, 1, "", "PhenopacketPatientCreator"], [17, 1, 1, "", "PhenopacketVariantCoordinateFinder"], [17, 1, 1, "", "PreprocessingValidationResult"], [17, 1, 1, "", "ProtCachingMetadataService"], [17, 1, 1, "", "ProteinAnnotationCache"], [17, 1, 1, "", "ProteinMetadataService"], [17, 1, 1, "", "TranscriptCoordinateService"], [17, 1, 1, "", "UniprotProteinMetadataService"], [17, 1, 1, "", "VVHgvsVariantCoordinateFinder"], [17, 1, 1, "", "VVMultiCoordinateService"], [17, 1, 1, "", "VarCachingFunctionalAnnotator"], [17, 1, 1, "", "VariantAnnotationCache"], [17, 1, 1, "", "VariantCoordinateFinder"], [17, 1, 1, "", "VepFunctionalAnnotator"], [17, 5, 1, "", "configure_caching_cohort_creator"], [17, 5, 1, "", "configure_cohort_creator"], [17, 5, 1, "", "configure_default_protein_metadata_service"], [17, 5, 1, "", "configure_protein_metadata_service"], [17, 5, 1, "", "load_phenopacket_files"], [17, 5, 1, "", "load_phenopacket_folder"], [17, 5, 1, "", "load_phenopackets"]], "gpsea.preprocessing.CohortCreator": [[17, 4, 1, "", "process"]], "gpsea.preprocessing.DefaultImpreciseSvFunctionalAnnotator": [[17, 4, 1, "", "annotate"]], "gpsea.preprocessing.FunctionalAnnotator": [[17, 4, 1, "", "annotate"]], "gpsea.preprocessing.GeneCoordinateService": [[17, 4, 1, "", "fetch_for_gene"]], "gpsea.preprocessing.ImpreciseSvFunctionalAnnotator": [[17, 4, 1, "", "annotate"]], "gpsea.preprocessing.PatientCreator": [[17, 4, 1, "", "process"]], "gpsea.preprocessing.PhenopacketOntologyTermOnsetParser": [[17, 4, 1, "", "default_parser"], [17, 4, 1, "", "process"]], "gpsea.preprocessing.PhenopacketPatientCreator": [[17, 4, 1, "", "process"]], "gpsea.preprocessing.PhenopacketVariantCoordinateFinder": [[17, 4, 1, "", "find_coordinates"]], "gpsea.preprocessing.PreprocessingValidationResult": [[17, 4, 1, "", "is_ok"], [17, 2, 1, "", "policy"], [17, 4, 1, "", "summarize"]], "gpsea.preprocessing.ProtCachingMetadataService": [[17, 4, 1, "", "annotate"]], "gpsea.preprocessing.ProteinAnnotationCache": [[17, 4, 1, "", "get_annotations"], [17, 4, 1, "", "store_annotations"]], "gpsea.preprocessing.ProteinMetadataService": [[17, 4, 1, "", "annotate"]], "gpsea.preprocessing.TranscriptCoordinateService": [[17, 4, 1, "", "fetch"]], "gpsea.preprocessing.UniprotProteinMetadataService": [[17, 4, 1, "", "annotate"], [17, 4, 1, "", "parse_uniprot_json"]], "gpsea.preprocessing.VVHgvsVariantCoordinateFinder": [[17, 4, 1, "", "find_coordinates"]], "gpsea.preprocessing.VVMultiCoordinateService": [[17, 4, 1, "", "fetch"], [17, 4, 1, "", "fetch_for_gene"], [17, 4, 1, "", "get_response"], [17, 4, 1, "", "parse_multiple"], [17, 4, 1, "", "parse_response"]], "gpsea.preprocessing.VarCachingFunctionalAnnotator": [[17, 4, 1, "", "annotate"], [17, 4, 1, "", "with_cache_folder"]], "gpsea.preprocessing.VariantAnnotationCache": [[17, 4, 1, "", "get_annotations"], [17, 4, 1, "", "store_annotations"]], "gpsea.preprocessing.VariantCoordinateFinder": [[17, 4, 1, "", "find_coordinates"]], "gpsea.preprocessing.VepFunctionalAnnotator": [[17, 3, 1, "", "NONCODING_EFFECTS"], [17, 4, 1, "", "annotate"], [17, 4, 1, "", "fetch_response"], [17, 4, 1, "", "format_coordinates_for_vep_query"], [17, 4, 1, "", "process_response"]], "gpsea.util": [[18, 5, 1, "", "open_text_io_handle_for_reading"], [18, 5, 1, "", "open_text_io_handle_for_writing"]], "gpsea.view": [[19, 1, 1, "", "CohortVariantViewer"], [19, 1, 1, "", "CohortViewer"], [19, 1, 1, "", "DiseaseViewer"], [19, 1, 1, "", "Formatter"], [19, 1, 1, "", "GpseaReport"], [19, 1, 1, "", "MtcStatsViewer"], [19, 1, 1, "", "ProteinVariantViewer"], [19, 1, 1, "", "ProteinVisualizable"], [19, 1, 1, "", "ProteinVisualizer"], [19, 1, 1, "", "VariantFormatter"], [19, 1, 1, "", "VariantTranscriptVisualizer"], [19, 5, 1, "", "summarize_hpo_analysis"]], "gpsea.view.CohortVariantViewer": [[19, 4, 1, "", "process"]], "gpsea.view.CohortViewer": [[19, 4, 1, "", "process"]], "gpsea.view.DiseaseViewer": [[19, 4, 1, "", "process"]], "gpsea.view.Formatter": [[19, 4, 1, "", "format_as_string"]], "gpsea.view.GpseaReport": [[19, 4, 1, "", "write"]], "gpsea.view.MtcStatsViewer": [[19, 4, 1, "", "process"]], "gpsea.view.ProteinVariantViewer": [[19, 4, 1, "", "process"]], "gpsea.view.ProteinVisualizable": [[19, 2, 1, "", "marker_counts"], [19, 2, 1, "", "protein_feature_ends"], [19, 2, 1, "", "protein_feature_names"], [19, 2, 1, "", "protein_feature_starts"], [19, 2, 1, "", "protein_feature_types"], [19, 2, 1, "", "protein_id"], [19, 2, 1, "", "protein_length"], [19, 2, 1, "", "protein_metadata"], [19, 2, 1, "", "transcript_coordinates"], [19, 2, 1, "", "transcript_id"], [19, 2, 1, "", "variant_effects"], [19, 2, 1, "", "variant_locations"], [19, 2, 1, "", "variant_locations_counted_absolute"]], "gpsea.view.ProteinVisualizer": [[19, 4, 1, "", "draw_fig"], [19, 4, 1, "", "draw_protein_diagram"]], "gpsea.view.VariantFormatter": [[19, 4, 1, "", "format_as_string"]], "gpsea.view.VariantTranscriptVisualizer": [[19, 4, 1, "", "draw_variants"]]}, "objnames": {"0": ["py", "module", "Python module"], "1": ["py", "class", "Python class"], "2": ["py", "property", "Python property"], "3": ["py", "attribute", "Python attribute"], "4": ["py", "method", "Python method"], "5": ["py", "function", "Python function"], "6": ["py", "data", "Python data"]}, "objtypes": {"0": "py:module", "1": "py:class", "2": "py:property", "3": "py:attribute", "4": "py:method", "5": "py:function", "6": "py:data"}, "terms": {"": [4, 6, 7, 9, 10, 11, 12, 14, 15, 16, 17, 22, 23, 26, 27, 28, 30, 32, 34, 35, 36, 44, 45], "0": [1, 2, 3, 6, 8, 10, 15, 16, 17, 19, 23, 25, 26, 27, 28, 30, 32, 34, 35, 36, 37, 40, 44, 45], "000": 6, "0000002": 31, "0000047": 37, "0000078": 31, "0000079": 31, "0000080": 31, "0000098": 37, "0000118": [2, 31, 35], "0000119": 31, "0000152": 31, "0000223": 31, "0000234": 31, "0000252": 37, "0000256": 37, "0000271": 31, "0000316": 37, "0000356": 31, "0000359": 31, "0000370": 31, "0000377": 37, "0000407": 27, "0000464": 31, "0000478": 31, "0000486": 26, "0000496": 31, "0000504": 31, "0000517": 40, "0000539": 31, "0000553": 31, "0000562": 23, "0000591": 31, "0000598": 31, "0000707": [31, 35], "0000759": 31, "0000769": 31, "0000777": 31, "0000818": 31, "0000820": 31, "0000828": 31, "0000834": 31, "0000847": 31, "0000864": 31, "0000924": 31, "0000927": 31, "0000929": 31, "0000951": 31, "0000971": 31, "0001060": 15, "0001115": 35, "0001155": 31, "0001166": [1, 3, 7], "0001167": [23, 26], "0001172": 26, "0001191": [23, 30], "0001194": 31, "0001197": 31, "0001199": [23, 26, 30], "0001249": 37, "0001250": [7, 8, 15], "0001256": 37, "0001263": 37, "0001311": 31, "0001392": 31, "0001437": 31, "0001438": 31, "0001446": 31, "0001454": 31, "0001507": 31, "0001511": 37, "0001518": 37, "0001537": 6, "0001551": 31, "0001560": 31, "0001566": 15, "0001567": 15, "0001574": [15, 31], "0001575": 15, "0001578": 15, "0001580": 15, "0001583": 15, "0001587": 15, "0001589": 15, "0001595": 31, "0001597": 31, "0001608": 31, "0001619": 15, "0001620": 15, "0001621": 15, "0001623": 15, "0001624": 15, "0001626": [15, 31], "0001627": [15, 27, 31, 37], "0001628": 15, "0001629": [23, 26, 30], "0001630": 15, "0001631": [15, 23, 26, 30], "0001632": 15, "0001671": [23, 26], "0001684": [23, 26, 30], "0001732": 31, "0001743": 31, "0001760": 31, "0001782": 15, "0001787": [15, 31], "0001792": 15, "0001818": 15, "0001819": 15, "0001821": 15, "0001822": 15, "0001871": 31, "0001872": 31, "0001877": 31, "0001881": 31, "0001889": 15, "0001891": 15, "0001892": [15, 31], "0001893": 15, "0001894": 15, "0001895": 15, "0001906": 15, "0001907": 15, "0001928": 31, "0001939": 31, "0001965": 31, "0001977": 31, "0002012": [15, 31], "0002019": 15, "0002086": 31, "0002169": 15, "0002170": 15, "0002187": 37, "0002270": 31, "0002339": 35, "0002342": 37, "00024192670136836828": 26, "000242": 26, "0002585": 31, "0002597": 31, "0002664": 31, "0002715": 31, "0002733": 31, "0002793": 31, "0002795": 31, "0002813": 31, "0002814": 31, "0002817": 31, "0002916": 31, "0002926": 31, "0002973": 31, "0002981": 31, "0002984": [23, 26, 30], "0003011": 31, "0003110": 31, "0003111": 31, "0003117": 31, "0003220": 31, "0003254": 31, "0003256": 31, "0003498": 37, "0003549": 31, "0003621": 17, "0003774": 28, "0003839": 31, "0003974": [23, 26, 30], "0004298": 31, "0004312": 31, "0004322": 37, "0004323": 31, "0004328": 31, "0004329": 31, "0004332": 31, "0004337": 31, "0004352": 31, "0004353": 31, "0004356": 31, "0004360": 31, "0004361": 31, "0004370": 31, "0004371": 31, "0004378": 31, "0004404": 31, "0004408": 31, "0004930": 31, "0005120": [23, 26], "0005368": 31, "0005561": 31, "0005922": [23, 26, 37], "0005927": 26, "0006265": 26, "0006476": 31, "0006490": 31, "0006496": [23, 26], "0006500": 31, "0006529": 31, "0006707": 31, "0006889": 37, "0007686": 31, "0008047": 31, "000899": 23, "0008990549794102921": 23, "0009115": [23, 26], "0009124": 31, "0009127": 31, "0009777": [23, 26, 30], "0009778": [23, 26, 30], "0009809": 31, "0009810": 31, "0009815": [23, 26], "0010696": 35, "0010864": 37, "0010876": 31, "0010881": 31, "0010932": 31, "0010935": 31, "0010936": 31, "0010938": 37, "0010948": 31, "0010968": 31, "0010969": 31, "0010974": 31, "0010977": 31, "0010978": 31, "0010987": 31, "0010991": 31, "0011014": 31, "0011017": 31, "0011018": 31, "0011019": 31, "0011024": 31, "0011025": 31, "0011028": 31, "0011032": 31, "0011043": 31, "0011111": 31, "0011121": 31, "0011122": 31, "0011138": 31, "0011277": 31, "0011297": [23, 26], "0011314": 26, "0011342": 37, "0011343": 37, "0011344": 37, "0011409": 31, "0011442": 31, "0011446": 31, "0011620": 31, "0011623": 26, "0011730": 31, "0011732": 31, "0011733": 31, "0011766": 31, "0011767": 31, "0011772": 31, "0011804": 31, "0011805": 31, "0011842": 31, "0011843": 31, "0011844": [23, 26], "0011869": 31, "0011875": 31, "0011884": 31, "0011893": 31, "0011902": 31, "0011994": [23, 26], "0012029": 31, "0012093": 31, "0012099": 31, "0012103": 31, "0012111": 31, "0012129": 31, "0012130": 31, "0012131": 31, "0012135": 31, "0012143": 31, "0012145": 31, "0012210": 27, "0012243": 31, "0012252": 31, "0012261": 31, "0012285": 31, "0012337": 31, "0012338": 31, "0012345": 31, "0012372": [27, 31], "0012373": 31, "0012379": 31, "0012415": 31, "0012443": [8, 27], "0012447": 31, "0012503": 31, "0012535": 31, "0012591": 31, "0012614": 31, "0012632": 31, "0012638": 31, "0012639": 31, "0012640": 31, "0012647": 31, "0012654": 31, "0012680": 31, "0012681": 31, "0012688": 31, "0012700": 31, "0012718": 31, "0012757": 31, "0012769": 31, "0012772": 31, "0020047": 31, "0020054": 31, "0020058": 31, "0020061": 31, "0020155": 31, "0020169": 31, "0025015": 31, "0025021": 31, "0025031": 31, "0025032": 31, "0025033": 31, "0025065": 31, "0025142": 31, "0025155": 31, "0025276": 31, "0025354": 31, "0025427": 31, "0025429": 31, "0025443": 31, "0025454": 31, "0025456": 31, "0025461": 31, "0025463": 31, "0025546": 31, "0025590": 31, "0025640": 31, "0025668": 31, "0025669": 31, "0025688": 31, "0030085": 31, "0030163": 31, "0030272": 31, "0030338": 31, "0030352": 31, "0030453": 31, "0030680": 31, "0030684": 31, "0030687": 31, "0030800": 31, "0030829": 31, "0030860": 31, "0030872": 31, "0030875": 31, "0030878": 31, "0030956": 31, "0030972": 31, "0031071": 31, "0031072": 31, "0031073": 31, "0031093": 31, "0031094": 31, "0031097": 31, "0031099": 31, "0031101": 31, "0031285": 31, "0031331": 31, "0031340": 31, "0031377": 31, "0031383": 31, "0031389": 31, "0031409": 31, "0031411": 31, "0031416": 31, "0031427": 31, "0031476": 31, "0031508": 31, "0031546": [23, 30], "0031550": 31, "0031602": 31, "0031653": 31, "0031657": 31, "0031685": 31, "0031703": 31, "0031704": 31, "0031818": 31, "0031850": 31, "0031871": 31, "0031884": 31, "0031910": 31, "0031982": 35, "0032120": 31, "0032180": 31, "0032226": 31, "0032243": 31, "0032245": 31, "0032251": 31, "0032314": 31, "0032367": 31, "0032481": 31, "0032485": 31, "0032488": 31, "0032943": 31, "0033012": 31, "0033013": 31, "0033072": 31, "0033127": 31, "0033170": 31, "0033334": 31, "0033335": 31, "0033354": 31, "0033358": 31, "0033796": 31, "0033799": 31, "0034190": 31, "0034200": 31, "0034251": 31, "0034263": 31, "0034370": 31, "0034430": 31, "0034442": 31, "0034482": 31, "0034552": 31, "0034644": 31, "0034684": 31, "0034698": 31, "0034737": 31, "0034858": 31, "0034899": 31, "0034915": 31, "0034916": 31, "0034977": 31, "0037136715160199273": 26, "0040064": 31, "0040068": 31, "0040069": 31, "0040070": 31, "0040084": 31, "0040085": 31, "0040127": 31, "0040172": 31, "0040203": 31, "0040207": 31, "0040214": 31, "0040224": 31, "0040231": 31, "0045026": 31, "0045027": 31, "0045060": [23, 26], "0045081": 31, "005628510156750059": 23, "005806": 26, "005806240832840839": 26, "01": [23, 26, 27, 28, 30, 34, 35, 37, 40], "0100016": 31, "0100022": 31, "0100491": 31, "0100508": 31, "0100530": 31, "0100536": 31, "0100685": 31, "0100705": 31, "0100763": 31, "0100765": 31, "0100766": 31, "0100767": 31, "0100886": 31, "0100887": 31, "012074957610483744": 27, "02560162393963452": 23, "0410008": 31, "0410009": 31, "0410014": 31, "0430071": 31, "04456405819223913": 26, "04502808125400047": 23, "05": [1, 3, 23, 26, 35], "0500012": 31, "0500015": 31, "0500016": 31, "0500017": 31, "0500018": 31, "0500019": 31, "0500020": 31, "0500114": 31, "0500117": 31, "0500166": 31, "0500183": 31, "0500238": 31, "06": [26, 27], "06200425830044376": 28, "06544319142266644": 26, "06932119159387057": 26, "07": [23, 26, 27, 28, 30, 34, 35, 37, 40], "08470708701170182": 26, "0f": 28, "1": [1, 2, 3, 6, 10, 15, 16, 17, 23, 25, 26, 27, 28, 30, 31, 32, 34, 35, 36, 37, 40, 44, 45], "10": [2, 6, 8, 15, 17, 19, 23, 25, 26, 27, 28, 30, 35, 37], "100": [2, 23, 26, 35], "1000": 15, "1000029": [6, 15, 45], "1001": [15, 32], "1003": 32, "100del": 23, "100dup": [23, 30], "101": 15, "1024del": 23, "106_107insc": [23, 30], "11": [15, 16, 23, 25, 30, 35], "113": 30, "117": [23, 30], "12": [23, 25, 34], "120": [15, 27, 28, 34], "1221c": [23, 34], "123": [8, 10], "129600": 38, "12_114355723_114355723_g_a": 23, "12_114355755_114355756_tg_t": 23, "12_114355784_114355785_ca_c": 23, "12_114356064_114356065_ta_t": 23, "12_114366207_114366208_gc_g": 23, "12_114366241_114366242_ct_c": 23, "12_114366267_114366267_c_a": 23, "12_114366274_114366274_g_t": 23, "12_114366312_114366312_g_a": 23, "12_114366348_114366349_ct_c": 23, "12_114366360_114366360_c_t": 23, "12_114366366_114366366_t_a": 23, "12_114385474_114385474_a_g": 23, "12_114385475_114385475_c_t": 23, "12_114385521_114385521_c_g": 23, "12_114385521_114385521_c_t": [23, 30], "12_114385522_114385522_g_a": [23, 30], "12_114385550_114385550_a_aattattctcag": 23, "12_114385553_114385553_c_a": 23, "12_114385563_114385563_g_a": [23, 30], "12_114394743_114394746_tgtg_t": 23, "12_114394762_114394763_ca_c": 23, "12_114394817_114394817_g_c": 23, "12_114394820_114394820_c_g": 23, "12_114398568_114398568_c_a": 23, "12_114398578_114398579_ca_c": 23, "12_114398602_114398602_t_g": 23, "12_114398626_114398627_cg_c": 23, "12_114398632_114398632_g_a": 23, "12_114398656_114398656_c_cg": [23, 30], "12_114398666_114398667_tg_t": 23, "12_114398675_114398675_g_t": [23, 30], "12_114398682_114398682_c_cg": [23, 30], "12_114398708_114398709_gc_g": 23, "12_114399514_114399514_a_c": [23, 30], "12_114399559_114399559_t_c": 23, "12_114399594_114399594_a_c": 23, "12_114399613_114399613_t_a": 23, "12_114399622_114399622_g_t": 23, "12_114399625_114399629_acatc_a": 23, "12_114399633_114399633_c_g": 23, "12_114401827_114401827_t_a": 23, "12_114401830_114401830_c_t": [23, 30], "12_114401846_114401846_c_g": 23, "12_114401853_114401853_g_t": 23, "12_114401873_114401874_ta_t": 23, "12_114401907_114401907_a_g": 23, "12_114401921_114401921_c_g": 23, "12_114403754_114403754_g_t": 23, "12_114403792_114403792_c_cg": [23, 30], "12_114403798_114403798_g_gc": [23, 30], "12_114403798_114403799_gc_g": 23, "12_114403859_114403859_g_t": 23, "13": [1, 2, 3, 23, 25, 26, 30], "1304del": 23, "1333del": 23, "13654199434471745": 23, "1366c": 23, "14": [23, 25, 26, 30], "142900": [23, 30], "1435th": 45, "145c": 23, "148": 23, "15": [16, 23, 30], "154700": 38, "1554": 34, "156": [23, 26, 30, 34, 40], "16": 23, "161t": 23, "16436": 28, "16th": 17, "17": [23, 26], "18": [23, 26, 34, 40], "1824c": 15, "18262": 28, "18869165": 34, "18869682": 34, "18921399": 34, "19": [23, 26, 27, 30, 34, 45], "194del": 23, "19723": 28, "1_8358231_8358231_t_c": 45, "1d": 19, "1g": 23, "1st": [6, 15, 34], "2": [2, 3, 4, 6, 9, 10, 12, 15, 16, 17, 23, 25, 26, 27, 28, 30, 31, 32, 34, 35, 36, 37, 44, 45], "20": [2, 6, 15, 23, 25, 26, 27, 28, 30, 35, 45], "2011": 37, "2015": 21, "2018": [27, 34], "2019": 25, "2022": [29, 37], "2024": 27, "205": 15, "206": 15, "207": 28, "21": 26, "211": 23, "215c": 23, "22": [2, 23, 26, 30], "22280": 28, "222g": 23, "223": 15, "224": 15, "22_10001_20000_inv": [6, 15], "23": [23, 26, 31], "238g": [23, 30], "24": 26, "241a": 23, "243": 23, "246_249del": 23, "25": [15, 26, 28], "250": [30, 34], "253a": 17, "253c": 23, "256000": [7, 8], "262a": 23, "263": 34, "27": [23, 26, 30], "27bp": 15, "28": [23, 26], "281t": 23, "287": 26, "2986": [8, 15, 25], "299": 34, "29th": 17, "2d": 2, "2nd": 6, "2t": 23, "2x2": 4, "2x3": 4, "3": [2, 4, 15, 17, 23, 27, 28, 31, 32, 35, 36], "30": [15, 17, 23, 26, 30], "3000013": 31, "3000036": 31, "3000050": 31, "303": 25, "30552424": 23, "31": [23, 26], "316a": 23, "32": [23, 26, 30], "320": 34, "321681": 15, "321682": 15, "321887": 15, "33": [23, 26], "34": [23, 26], "345": 26, "346": 34, "348081479150901e": 27, "348081479150902e": 27, "353": 23, "356": [30, 34], "36": [23, 26, 30, 35], "3603": [15, 17], "361t": [23, 30], "36303223": 29, "365": 15, "3652": 15, "369": [23, 26, 40], "374del": 23, "38": [23, 30], "38336121": 23, "4": [2, 6, 8, 10, 15, 17, 23, 26, 27, 28, 30, 34, 35], "40": [2, 23, 30, 35], "4000056": 31, "4000183": 31, "400dup": [23, 30], "4065940176561687": 26, "408c": [23, 30], "40c": 23, "41": [23, 26, 30], "416del": 23, "42": [19, 23, 26], "426dup": [23, 30], "43": [23, 26], "4304a": 45, "432292015291845e": 26, "4375": 15, "44": [23, 26], "45": [23, 26], "450": 35, "451c": 23, "456": 10, "456del": 23, "46": [23, 30, 34], "48": [23, 26], "481a": 23, "4870099714553749": 26, "5": [1, 3, 6, 15, 17, 23, 26, 27, 28, 30, 34, 37, 44, 45], "50": [6, 15, 23, 26, 30, 45], "504del": 23, "50bp": 6, "51": [23, 30], "510": 23, "518": [30, 34], "52": 23, "53": [23, 26, 30], "54": [23, 30], "55": [23, 26], "56": [23, 30], "578": 15, "58": 26, "584g": 23, "587c": 23, "59": 26, "5g": 23, "5th": [6, 15, 23], "5x": 27, "6": [15, 23, 26, 27, 28, 29, 30, 32, 35, 45], "60": 23, "6000062": 31, "6000231": 31, "6000489": 31, "6000673": 31, "614": 25, "6190936213143254e": 23, "62": 23, "63": 26, "630": 25, "64": [23, 26, 35], "641del": 23, "65": 26, "658_660del": 23, "664": 25, "668c": [23, 30], "67": 26, "678g": 23, "680_681insctgagaataat": 23, "69": [25, 26], "7": [1, 3, 6, 10, 15, 23, 30, 35], "709c": [23, 30], "71": [23, 26], "710g": [23, 30], "72": 23, "741216622359659": 25, "75": 26, "755": 23, "7703831604944444": 26, "7735491022101784": 23, "78": 26, "781a": 23, "787g": 23, "798del": 23, "8": [8, 15, 17, 18, 23, 25, 26, 30, 34, 35], "80": [26, 34], "833333333333336": 26, "835c": 23, "84": 26, "85": [23, 30], "873c": 23, "880g": 23, "89": 26, "9": [25, 26, 34], "90": 35, "905del": 23, "93": 26, "939del": 23, "94": 23, "95": [23, 35], "97": 26, "9876g": 15, "99": [26, 35], "A": [2, 3, 6, 7, 8, 10, 12, 15, 17, 19, 21, 23, 30, 32, 34, 35, 37, 39, 41, 44], "AND": [6, 27, 45], "AT": 32, "As": [5, 7, 27, 30, 41, 45], "But": 30, "By": [2, 19, 23, 35, 40], "For": [2, 4, 7, 8, 14, 15, 16, 23, 25, 26, 27, 28, 29, 30, 32, 34, 35, 36, 40, 44, 45], "INS": 15, "If": [2, 3, 6, 11, 13, 15, 17, 18, 23, 26, 35, 37], "In": [2, 4, 8, 15, 17, 21, 23, 26, 27, 28, 29, 30, 33, 34, 35, 37, 40, 41, 44], "It": [3, 4, 23, 30, 35, 43], "NO": 7, "NOT": [2, 15, 16, 25, 45], "No": [1, 3, 16, 23, 30, 34, 40], "Not": 15, "OR": [6, 25, 27, 44, 45], "On": [3, 7, 34], "One": [28, 37, 45], "That": 22, "The": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 19, 21, 22, 25, 26, 27, 28, 30, 31, 32, 33, 34, 35, 36, 38, 39, 40, 41, 43, 44, 45], "Then": [15, 22, 23, 34], "There": [15, 23, 24], "These": [6, 15], "To": [17, 22, 23, 26, 27, 34, 35, 45], "_": [27, 28, 34, 40], "__eq__": 6, "__hash__": 6, "__init__": [15, 17], "__repr__": 6, "__str__": 6, "_api": [2, 3], "_cohort": 15, "_io": 17, "_measur": 25, "_missing_implies_phenotype_exclud": 7, "_stat": 3, "_t": 15, "_tempor": 15, "_term_id": 2, "_variant": 44, "a_label": [6, 23, 25, 26, 27, 28, 44], "a_pred": [6, 23, 25, 26, 27, 28, 44], "aa": 6, "aat": 32, "ab": 6, "abbrevi": [19, 35], "abdomen": 31, "abdomin": 31, "abil": 30, "abnorm": [8, 21, 23, 26, 27, 30, 31, 32, 40], "about": [2, 6, 11, 15, 17, 19, 22, 23, 30, 33, 34, 35, 37, 39, 40], "abov": [6, 22, 31, 34, 37, 38], "absenc": [1, 3, 7, 23, 30, 40], "absens": 30, "absent": [23, 26, 30], "absolut": 6, "abstract": [2, 4, 5, 6, 7, 8, 9, 10, 12, 15, 16, 17, 19], "ac": [36, 44], "ac_": 44, "accept": [15, 17], "acceptor": 23, "access": [6, 15, 16, 17, 22, 23, 27, 34, 35, 40], "accommod": 31, "accord": [2, 3, 23, 26, 30, 31], "account": 35, "acetylaspart": 31, "acid": [15, 30, 31, 34], "across": [2, 19, 33, 43], "actg": 32, "activ": [30, 31], "actual": [30, 34], "ad": 37, "adapt": [8, 31], "add": [22, 39], "addit": [4, 22, 23], "addition": 23, "address": 3, "adenosin": 31, "adiponectin": 31, "adipos": 31, "adjac": 16, "adjust": [26, 37], "adnexa": 31, "adren": 31, "adrenocorticotropin": 31, "advanc": 2, "advantag": [23, 26, 35, 40], "affect": [6, 15, 23, 29, 32, 34, 36, 45], "affected_exon": 15, "affects_egfr": 36, "affects_lmna": 36, "after": [1, 3, 17, 22], "ag": [0, 10, 11, 15, 17, 23, 28, 30, 37], "against": 29, "age_of_death": 15, "aii": 28, "aiii": 28, "al": [8, 21, 25, 27, 29, 34, 37], "ala143argfster40": [23, 30], "ala34glyfster27": [23, 30], "ala34profster32": [23, 30], "albumin": 31, "aldosteron": 31, "alel": 44, "align": 15, "aliv": [11, 15, 23, 30], "all": [1, 2, 3, 5, 6, 7, 8, 15, 17, 22, 26, 28, 31, 32, 33, 34, 39, 41, 42, 44, 45], "all_count": [1, 3], "all_diseas": 15, "all_measur": 15, "all_pati": 15, "all_phenotyp": 15, "all_transcript_id": 15, "all_vari": 15, "all_variant_info": 15, "allel": [6, 7, 8, 15, 21, 26, 27, 28, 29, 33, 39, 44, 45], "allele_count": [5, 6, 36], "allelecount": [5, 6], "allianc": 21, "allow": [3, 30, 33, 34, 35, 41, 44], "allow_nan": 14, "alon": 35, "along": [14, 26, 34, 36, 39], "alpha": [1, 3, 26, 31, 35], "alreadi": 34, "also": [15, 31, 34, 39, 40], "alt": [15, 32], "altern": [6, 12, 15, 27, 30, 32, 35, 36], "although": 30, "alwai": [6, 15, 16, 34], "amaz": 34, "amino": [15, 30, 31], "aminoacid": [6, 15, 16, 19, 34], "amniot": 31, "among": [2, 15], "amount": [8, 34], "amyloid": 31, "an": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 15, 16, 17, 18, 19, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 33, 34, 35, 38, 39, 40, 41, 44, 45], "analys": [1, 33, 34, 41, 44], "analysi": [0, 15, 17, 19, 21, 24, 29, 33, 34, 36, 37, 38, 40, 41, 43, 44, 45], "analysisresult": [0, 1, 3], "analyz": [0, 8, 10, 19, 23, 25, 27, 28, 30, 41], "anatomi": [23, 34], "ancestor": [7, 23, 32, 40], "andolfo": 34, "aneurysm": 32, "angiotensin": 31, "ani": [2, 5, 6, 8, 14, 15, 17, 26, 27, 30, 34, 35, 36, 37, 38, 45], "ank": [6, 15], "ankyrin": 15, "annot": [2, 6, 7, 11, 15, 17, 19, 23, 26, 30, 32, 34, 35, 40, 45], "annotation_frequency_threshold": [2, 35], "anomali": [27, 37], "anoth": [7, 16, 23, 34], "answer": 6, "anterior": [31, 40], "antimullerian": 31, "anu": 31, "api": [15, 17, 21, 26, 30, 41, 45], "aplasia": [23, 26], "apoptosi": 31, "appear": 31, "appendicular": [23, 26], "appli": [1, 3, 9, 32, 35], "applic": 23, "apply_predicates_on_pati": [1, 3], "approach": [33, 35], "appropri": [23, 24, 30], "ar": [1, 2, 3, 6, 8, 9, 10, 15, 16, 17, 19, 21, 22, 23, 24, 25, 26, 27, 29, 30, 31, 34, 37, 40, 41, 44, 45], "arachnodactyli": 7, "arbitrari": [14, 16], "areolar": 31, "arg": 14, "arg134profster49": [23, 30], "arg237gln": [23, 30], "arg237pro": 23, "arg237trp": [23, 30], "arg279ter": [23, 30], "arg81trp": 23, "arginin": 45, "argument": [8, 13, 19, 35, 36, 40], "arithmet": 16, "arm": 31, "aromatas": 31, "around": [4, 9, 12, 15], "arrai": [4, 19], "arrang": 31, "arrhythmia": 23, "arriv": 35, "ask": [2, 21], "aspect": [19, 30], "assembl": 17, "assembli": 16, "assert": [15, 16], "assess": [1, 3, 15, 27, 37], "assign": [1, 3, 5, 6, 7, 8, 10, 15, 26, 27, 37, 38, 39, 41, 44, 45], "assist": 33, "associ": [1, 3, 8, 15, 17, 21, 23, 25, 29, 30, 34, 41], "assum": [15, 16, 17, 25, 35], "assumpt": [35, 40], "atrial": [23, 26, 30, 31], "atrium": [23, 26], "atrophi": 27, "atrophin": 27, "attach": 15, "attain": [1, 3, 28], "attribut": [3, 6, 7, 15, 21], "automat": 27, "autonom": 31, "autosom": [23, 44], "avail": [1, 2, 10, 15, 17, 21, 23, 26, 27, 30, 34, 41, 45], "avoid": [19, 31], "ax": [8, 10, 19, 23, 27, 28, 30, 34], "axi": [27, 28, 31, 36, 39], "b": [6, 15, 16, 35, 44], "b_label": [6, 23, 25, 26, 27, 28, 44], "b_predic": [6, 23, 25, 27, 28, 44], "back": [13, 17, 34], "background": [21, 33], "backup": 15, "bandwidth": 34, "base": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 14, 15, 16, 17, 18, 19, 23, 26, 27, 31, 32, 34, 36, 37, 38, 41, 43], "baseview": 19, "basi": 30, "basic": [15, 16, 34, 45], "batteri": 7, "bb": 6, "becaus": [2, 15, 29, 30, 31, 32, 35, 37], "been": [10, 15, 23, 26, 34, 35], "befor": [15, 45], "behavior": 21, "behind": [23, 40], "being": [1, 2, 3, 12, 16, 17, 19, 23, 30, 35, 37, 41, 45], "belong": [2, 15], "below": [6, 32], "benjamini": [1, 3, 23, 26, 35], "besid": 34, "best": 21, "beta": [31, 34], "better": 45, "between": [3, 8, 10, 11, 15, 16, 19, 21, 23, 25, 26, 27, 28, 30, 32, 35, 37, 43], "beyond": 6, "bia": [15, 34], "biallel": 6, "biallelic_pred": [5, 6, 25, 44], "big": 25, "bin": [1, 3, 5, 6, 23, 27, 35], "bind": 15, "biolog": [15, 16, 27, 34], "biologi": 21, "biomark": 31, "biomed": [23, 34], "biopterin": 31, "birth": [15, 31], "bit": 40, "bleed": 31, "blood": 31, "bodi": 31, "boiler": 34, "boilerpl": 34, "bone": [23, 26, 31], "bonferroni": [23, 35], "bool": [2, 6, 7, 10, 15, 16, 17, 19], "boolean": 15, "borderlin": 37, "both": [1, 4, 15, 17, 23, 37, 38, 41, 44], "bound": [16, 17], "boundari": [15, 16], "box": [8, 27, 30, 34], "bp": [6, 15, 32, 45], "brain": [8, 27], "branch": [22, 35], "break": 15, "breakend": 15, "breakpoint": [6, 15, 17], "breast": 31, "breath": 31, "brief": 21, "bring": [23, 31], "bronchu": 31, "buccal": 31, "bug": 21, "build": [6, 15, 16, 17, 23, 26], "built": 34, "burden": [2, 3, 23, 35], "c": [5, 15, 17, 21, 23, 25, 27, 30, 32, 34, 45], "c17998": 15, "c46112": 15, "c46113": 15, "cach": [13, 17, 34], "cache_dir": 17, "cache_env": [0, 13], "calcium": 31, "calcul": [4, 8, 9, 12, 15, 16, 26, 30], "calf": 31, "call": [14, 15, 31, 34, 35], "callabl": 8, "can": [2, 3, 4, 5, 6, 7, 8, 15, 16, 17, 19, 22, 23, 26, 27, 28, 30, 31, 34, 35, 36, 37, 38, 39, 40, 44, 45], "cannot": [5, 8, 10, 11, 15, 17, 27, 34, 37, 41], "canon": 15, "cap": 35, "capabl": 41, "carboxyl": 31, "cardiac": [23, 26, 30, 31], "cardiomyocyt": 31, "cardiovascular": 31, "carpal": [23, 30], "carri": [27, 29, 34], "cart": 31, "cascad": 31, "case": [2, 8, 15, 17, 23, 26, 27, 30, 34, 40], "cat_id": [1, 5, 8, 10, 25, 27], "catalyt": 30, "cataract": 35, "catecholamin": 31, "categor": [2, 5, 6, 7, 30, 39, 44], "categori": [1, 3, 5, 7, 8, 10, 15, 23, 25, 26, 27, 30, 33, 34, 36, 37, 39], "catheter": 31, "caudat": 35, "caus": [21, 40], "caviti": 31, "ccc": 32, "cct": 15, "cd": [15, 22], "cdna": [15, 23], "cds_end": 15, "cds_start": 15, "cell": [30, 31], "cellular": 31, "censor": [10, 11], "central": 31, "cerebellar": 27, "certain": [6, 15, 30, 35, 39, 45], "certainli": 34, "cg": 32, "chanc": [23, 26, 35], "chang": [6, 15, 27, 33, 34, 45], "change_length": [6, 15, 27, 45], "charact": 15, "character": [15, 23], "characterist": 15, "check": [1, 3, 4, 6, 15, 16, 17, 23, 35, 45], "check_circular": 14, "checker": 34, "checkout": 22, "child": 2, "children": [31, 35], "choic": [15, 33], "choos": [6, 17, 23, 26, 30, 33], "chosen": [15, 23, 26, 34], "chr1": [15, 16, 32], "chr5": 15, "chrom": [15, 32], "chromosom": [6, 15, 17, 29, 31, 45], "chromosomal_delet": 45, "chronic": 28, "chrx": 16, "cilium": 31, "circul": 31, "cl": [14, 25, 26, 27, 28, 30, 34, 45], "class": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 14, 15, 16, 17, 19, 23, 30, 34, 35, 45], "classifi": 26, "clearanc": 31, "clearli": 45, "click": [15, 34], "clinic": [15, 23, 25, 34, 35, 37, 40], "clinvar": [23, 34], "clone": 22, "cluster": 39, "cm000663": 16, "coagul": 31, "code": [1, 2, 3, 8, 15, 17, 22, 23, 26, 27, 28, 30, 34], "coding_sequence_vari": 15, "codon": [15, 21, 34, 45], "cohort": [0, 2, 3, 6, 7, 8, 10, 15, 17, 19, 21, 33, 36, 41, 42], "cohort_cr": [17, 23, 34, 40], "cohort_nam": 23, "cohort_s": 2, "cohortcr": [0, 17, 34], "cohortvariantview": [0, 19, 23], "cohortview": [0, 19, 23, 30], "coiled_coil": 15, "collect": [2, 5, 6, 7, 9, 12, 15, 17, 21, 23, 34, 40], "color": 8, "column": [1, 2, 3, 8, 10, 15, 28], "com": 22, "combin": [15, 23, 45], "come": [16, 27, 30], "command": 22, "common": [1, 23, 29], "commonli": [16, 35], "compact": [6, 15], "compar": [4, 9, 10, 11, 12, 15, 24, 28, 29, 33, 38, 43, 44], "compare_genotype_vs_phenotyp": [3, 23, 26], "compare_genotype_vs_phenotype_scor": [8, 25, 27], "compare_genotype_vs_surviv": [10, 28], "comparison": [10, 15, 29, 44], "compil": 15, "complain": 17, "complet": [15, 17, 34, 35, 44], "complete_record": 1, "complex": 35, "compon": [27, 45], "composit": [15, 31, 34], "compositional_bia": 15, "compound": [6, 29, 31, 45], "comprehens": [21, 40], "comput": [1, 3, 6, 8, 9, 10, 11, 12, 17, 23, 26, 27, 28, 44], "compute_pv": [4, 9, 12], "compute_surviv": 10, "concentr": 31, "concept": [21, 32, 35], "conceptu": 15, "concern": [21, 27], "concis": 15, "conclus": 35, "condens": 31, "condit": [27, 35], "conduct": [23, 26, 30], "config": 0, "configur": [3, 6, 17, 23], "configure_caching_cohort_cr": [0, 17, 23, 34, 40], "configure_cohort_cr": [0, 17], "configure_default_protein_metadata_servic": [0, 17, 30, 34], "configure_hpo_term_analysi": [1, 3, 23, 26], "configure_ontology_stor": [23, 26, 27, 28, 30, 34, 35, 37, 40], "configure_phenopacket_registri": [23, 34, 40], "configure_protein_metadata_servic": [0, 17, 23], "congenit": [23, 26, 27], "connect": 31, "consequ": 15, "conserv": 15, "consid": [4, 6, 15, 16, 17, 26, 27, 31, 37], "consider": 31, "consist": [2, 15, 16, 34, 35], "consortium": 27, "constitut": 31, "construct": [17, 27, 40], "constructor": [2, 15, 35], "consult": [13, 30], "contain": [1, 2, 8, 15, 16, 17, 19, 23, 28, 31, 34], "contains_po": 16, "contemporari": 30, "content": 34, "context": [2, 21, 27, 35, 44], "contig": [15, 16, 34], "contig_by_nam": [15, 16, 32], "contigu": 16, "conting": [2, 3, 4, 26], "contingency_t": 26, "continuouspartit": [8, 10], "contribut": 30, "control": [23, 35], "conveni": [7, 17, 26, 34], "convers": 32, "convert": 17, "coordin": [6, 15, 16, 17, 19, 30, 32], "copi": 29, "cord": 31, "corneal": 31, "corpuscular": 31, "correct": [1, 3, 23, 26, 31, 33], "corrected_pv": [1, 3], "correctli": 17, "correl": [0, 1, 2, 3, 21, 23, 24, 30, 31, 33, 34, 35, 45], "correspon": 28, "correspond": [1, 2, 3, 6, 7, 8, 15, 16, 17, 23, 26, 27, 30, 32, 33, 35, 37, 44, 45], "cortisol": 31, "could": [1, 3, 14], "count": [1, 2, 3, 4, 6, 7, 8, 15, 19, 23, 26, 27, 30, 31, 33, 34, 37, 39, 44], "count_al": 15, "count_deceas": 15, "count_distinct_hpo_term": 15, "count_femal": 15, "count_mal": 15, "count_statist": [3, 26, 35], "count_unknown_sex": 15, "count_unknown_vital_statu": 15, "count_with_age_of_last_encount": 15, "count_with_disease_onset": 15, "counter": 15, "countingphenotypescor": [1, 8, 27], "counts_fram": 2, "countstatist": [3, 4], "coveni": 15, "cover": [5, 41], "cpd_viewer": 30, "cranial": 31, "creat": [2, 6, 7, 8, 13, 15, 16, 17, 19, 21, 23, 25, 26, 27, 28, 30, 33, 35, 36, 37, 40, 44, 45], "create_variant_from_scratch": 15, "creator": 17, "criteria": [6, 39, 45], "criterion": 6, "cry": 31, "csf": 31, "ct": 15, "culprit": 2, "curat": 23, "curi": [2, 6, 8, 15, 17], "current": [13, 15, 16, 17, 19, 22, 34, 43], "custom": [8, 34, 44], "cut": 40, "cycl": 31, "cyp21a2": 25, "cytologi": 31, "cytometri": 31, "d": 15, "dai": [15, 17, 28], "danger": 30, "darksalmon": 8, "data": [1, 2, 3, 4, 8, 10, 15, 16, 17, 19, 21, 23, 25, 26, 27, 30, 33, 35, 39, 40, 45], "data_column": 1, "databas": 17, "datadir": 17, "datafram": [1, 2, 3, 4, 8, 10, 15, 19, 28, 34], "dataset": [23, 26, 30], "days_in_month": 15, "days_in_week": 15, "days_in_year": [15, 28], "de": [8, 33, 42], "death": [10, 11, 15], "decad": 28, "deceas": [11, 15, 23, 30], "decid": [2, 15, 30, 31], "decilit": 15, "decis": 2, "decod": [14, 18, 34], "deem": 31, "deep": 21, "def": [8, 14], "default": [2, 3, 6, 13, 14, 17, 18, 19, 23, 34, 35, 40, 44], "default_cache_path": [0, 13], "default_filt": [2, 26, 35], "default_pars": 17, "defaultimprecisesvfunctionalannot": [0, 17], "defaulttermid": 2, "defect": [23, 26, 27, 30, 32], "defin": [3, 5, 6, 15, 28, 32, 36, 44], "definit": 15, "degre": 37, "dehydr": 34, "del": [6, 15, 32, 45], "delet": [6, 15, 23, 32, 45], "deliveri": 31, "demonstr": [23, 45], "denot": [15, 21], "depend": [1, 23, 24], "deposit": [26, 27], "deriv": 35, "descend": [6, 7, 8, 23, 27, 32, 37, 40], "describ": [8, 15, 17, 22, 25, 26, 27, 28, 30, 35, 40, 44, 45], "descript": [6, 7, 8, 15, 17, 25, 26, 27, 28, 36, 37, 40, 45], "design": [21, 30, 34, 35], "desir": [6, 17, 29, 31, 41], "despit": 23, "detail": [15, 23, 28, 35], "detect": 30, "determin": [6, 15, 17, 27, 35, 37], "develop": [15, 22, 28, 31, 35, 37], "deviat": [21, 26], "devri": 30, "devriesphenotypescor": [1, 8, 27, 37], "df": [15, 34], "diagnos": [6, 7, 11, 15, 38, 39], "diagnosi": [6, 7, 11, 33, 39], "diagnosis_pred": [5, 6, 38], "diagram": [19, 23, 30, 34], "dialog": 34, "dichotom": 26, "dict": [14, 17], "differ": [8, 10, 15, 16, 23, 24, 25, 26, 27, 28, 32, 33, 34, 35, 36, 37, 38, 41, 43, 44], "differenti": 21, "digest": 31, "digit": [23, 26], "dimension": 15, "dingeman": 37, "diploid": 15, "direct": [7, 15, 23, 35], "directori": [13, 17, 34], "disabl": [27, 35, 37], "discharg": 31, "discoveri": [23, 35], "discret": [3, 4, 5, 41], "diseas": [0, 6, 7, 11, 15, 21, 23, 28, 30, 36, 38, 39, 40, 44], "disease_by_id": 15, "disease_id": 11, "disease_id_queri": 7, "disease_onset": [10, 11], "diseaseanalysi": [1, 3], "diseasepresencepred": [5, 7], "diseaseview": [0, 19], "disord": [23, 30, 34], "displai": [2, 6, 19, 23, 30, 34], "disproportion": 37, "distanc": 16, "distance_to": 16, "distinct": [15, 30], "distribut": [8, 12, 15, 19, 27, 33, 43], "divid": [26, 39], "dl": 15, "dna": [16, 31], "do": [2, 6, 8, 16, 17, 19, 22, 23, 26, 34, 35, 40, 45], "doc": [25, 26, 27, 28, 30, 34, 45], "document": [21, 22, 24, 30, 34, 35], "doe": [2, 11, 13, 15, 17, 32], "domain": [2, 6, 15, 27, 31, 33, 34, 35, 45], "domin": [23, 29, 44], "done": [16, 22, 36, 39, 45], "donor": [15, 23], "dopamin": 31, "doubl": [8, 16], "down": [17, 40], "download": [15, 34], "downloaded_uniprot_json": 34, "downstream": [2, 16, 34, 41], "downstream_gene_vari": [15, 17], "dpi": [27, 28, 34], "dr": 26, "draw": [8, 10, 19, 34], "draw_fig": [19, 34], "draw_protein_diagram": [19, 23, 30], "draw_vari": 19, "drawn": 19, "driven": 31, "drop": 28, "drug": 31, "due": [15, 17], "dump": 14, "dup": 15, "duplic": [15, 17, 32], "durat": 15, "dure": 15, "e": [1, 2, 3, 6, 7, 8, 10, 11, 15, 16, 17, 21, 23, 26, 27, 30, 31, 32, 34, 35, 36, 38, 40, 44], "each": [1, 2, 3, 6, 7, 8, 10, 15, 17, 19, 21, 23, 26, 27, 28, 29, 30, 33, 35, 37, 41], "ear": [31, 37], "easi": [22, 43], "easiest": 34, "easili": [19, 38], "ectopia": [38, 40], "eff": [27, 45], "effect": [6, 15, 17, 23, 27, 30, 34, 44, 45], "either": [2, 6, 7, 8, 15, 16, 19, 26, 27, 34, 37], "elabor": 45, "electrolyt": 31, "electrophysiologi": 31, "element": [15, 16, 17, 19], "els": 14, "elsewher": [28, 30], "embryon": 31, "empir": 28, "empti": [15, 16, 17], "enabl": 22, "encod": [6, 7, 14, 15, 17, 18, 23, 25, 26, 27, 28, 34, 45], "encount": [11, 15, 23, 30], "end": [6, 15, 16, 17, 23, 28, 32, 34], "end_on_strand": 16, "endocrin": 31, "endpoint": [1, 10], "energi": 31, "enrich": 35, "ensembl": 15, "enst00000123456": 15, "ensur": [18, 44], "ensure_ascii": 14, "enter": 30, "entir": 34, "entiti": [7, 15, 16, 17], "entri": [17, 34, 40], "enum": [15, 16], "enumer": 19, "environ": [13, 19, 22, 30], "enzym": 31, "epiphysi": 31, "equal": [1, 3, 6, 15, 27, 35], "equival": [8, 27], "error": [15, 17, 23, 30, 34, 35], "erythrocyt": 31, "erythroid": 31, "erythropoietin": 31, "et": [8, 21, 25, 27, 29, 34, 37], "etc": [15, 17], "evalu": [6, 21, 26, 27], "even": [3, 31, 34, 35], "ever": 2, "everi": 28, "exact": [3, 4, 6, 8, 15, 17, 21, 23, 24, 27, 29, 30, 33, 35], "exactli": [6, 8, 35], "exampl": [1, 3, 4, 6, 7, 8, 9, 10, 14, 15, 17, 19, 23, 24, 29, 32, 33, 35, 38, 41, 45], "except": [14, 17, 45], "exclud": [2, 5, 7, 15, 16, 23, 26, 36, 40], "excluded_diseas": 15, "excluded_member_count": 15, "excluded_phenotyp": 15, "exclus": [5, 7, 23, 32, 41], "execut": [10, 25, 27, 28], "exemplifi": 30, "exercis": [31, 34], "exhaust": 5, "exibit": 7, "exist": [13, 17, 30, 35], "exon": [6, 15, 28, 34, 45], "exon20": 45, "exon_numb": 6, "exons_effect": 15, "expect": [2, 15, 17, 26, 27, 31, 34, 35, 39], "expenditur": 31, "experiment": 30, "explan": [2, 24, 42], "explicit": [2, 7, 35], "explicitli": [15, 40], "explor": [26, 27, 33, 34, 40], "exploratori": 33, "expos": 26, "express": [10, 17, 26, 31], "extend": 27, "extern": 37, "extract": [15, 17], "extraocular": 31, "extrem": [23, 26, 35], "ey": [27, 31, 40], "f": [8, 21, 28], "face": 31, "fact": [35, 45], "factor": [30, 31, 34, 35, 39], "factori": 2, "fail": [2, 15], "fall": [8, 13], "fallback": [13, 17], "fals": [2, 3, 6, 7, 10, 14, 15, 16, 17, 23, 26, 28, 30, 35], "famili": [15, 23, 35, 38], "far": 27, "farthest": 27, "fascia": 31, "fbn1": [6, 15], "fdr": [26, 35], "fdr_bh": [1, 3, 23, 26, 35], "fdr_by": 35, "fdr_gb": 35, "fdr_tsbh": 35, "fdr_tsbky": 35, "featur": [6, 7, 10, 15, 21, 22, 26, 27, 30, 40, 45], "feature_elong": 15, "feature_id": 6, "feature_trunc": 15, "feature_typ": [6, 15], "featureinfo": [0, 15], "featuretyp": [0, 6, 15], "fecal": 31, "feel": 41, "feenstra": [8, 37], "femal": [15, 23, 30, 43], "fet": [24, 30, 33], "fetal": 31, "fetch": [17, 23, 30, 33], "fetch_for_gen": 17, "fetch_respons": 17, "few": [32, 34, 45], "fh": [18, 19, 25, 26, 27, 28, 30, 45], "fiber": 31, "fibrillin": 15, "fibrinolysi": 31, "fibroblast": 31, "fiction": [6, 44], "field": [11, 15, 29], "fig": [23, 27, 28, 30, 34], "figsiz": [23, 27, 28, 30, 34], "figur": [17, 19, 34], "file": [15, 17, 18, 19, 25, 26, 27, 28, 30, 34, 45], "filter": [2, 3, 15, 23, 26, 31, 32, 33], "filter_method_nam": 2, "final": [26, 40], "find": [3, 16, 17, 23, 26, 34, 35, 39], "find_coordin": 17, "finder": 17, "finger": [23, 26], "fingertip": 34, "finish": 25, "finit": 10, "first": [6, 13, 15, 23, 26, 27, 30, 34, 35, 36, 39], "fisher": [3, 4, 21, 23, 24, 29, 30, 33, 35, 42], "fisher_exact": [4, 26], "fisherexacttest": [3, 4, 26, 35], "fit": 15, "five": 27, "five_prime_utr_vari": [15, 17], "fix": [34, 36], "flexibl": [26, 45], "flip": 16, "float": [1, 2, 3, 4, 8, 9, 10, 12, 15, 17, 26, 27], "flow": 31, "fluid": 31, "focal": 32, "focu": [21, 23], "fold": 15, "folder": [13, 17, 34], "follow": [3, 6, 10, 11, 15, 22, 23, 25, 26, 27, 28, 30, 31, 32, 34, 35, 37, 41, 44, 45], "foot": 31, "for_sampl": 15, "forearm": 31, "form": [4, 31, 34], "formal": 30, "format": [7, 15, 16, 17, 19, 30, 34], "format_as_str": 19, "format_coordinates_for_vep_queri": 17, "formatt": [0, 19], "formul": [30, 34], "forward": 16, "found": [15, 17, 23, 27, 30, 34, 35, 37], "four": [30, 34], "fpath_cache_dir": 17, "fpath_cohort": 30, "fpath_cohort_json": [25, 26, 27, 28, 45], "fragment": 15, "frame": [1, 2, 3, 4, 8, 10, 15, 19, 25, 27, 34, 45], "frameshift": [44, 45], "frameshift_vari": [15, 23, 26, 27, 30, 44, 45], "framework": 27, "free": 41, "frequenc": [2, 19, 23, 26, 35], "frequent": [23, 30, 32], "friendli": 2, "from": [2, 5, 6, 8, 10, 11, 12, 14, 15, 16, 17, 18, 21, 22, 23, 25, 26, 27, 28, 30, 31, 32, 33, 35, 36, 37, 38, 40, 41, 43, 44, 45], "from_curi": 40, "from_feature_fram": [15, 34], "from_iso8601_period": 15, "from_map": 15, "from_measurement_id": [8, 25], "from_pati": 15, "from_query_curi": [8, 27], "from_raw_part": 15, "from_str": 15, "from_term": 15, "from_uniprot_json": [15, 34], "from_vcf_liter": [15, 32], "from_vcf_symbol": [15, 32], "fuction": 17, "func": 8, "funcformatt": 28, "function": [4, 6, 7, 8, 9, 12, 15, 17, 18, 19, 23, 26, 27, 30, 31, 34, 40, 44, 45], "functional_annot": 17, "functionalannot": [0, 17], "functionalannotationawar": [0, 15], "further": [23, 27, 40], "furthermor": 34, "fwer": 35, "g": [1, 2, 3, 6, 7, 8, 10, 11, 15, 16, 17, 21, 23, 26, 27, 30, 31, 32, 34, 35, 36, 38, 40, 44, 45], "ga": 31, "ga4gh": [15, 21, 23, 25, 26, 27, 28, 33, 45], "gain": 23, "galleri": 33, "ganglion": 31, "gastrin": 31, "gastrointestin": 31, "gather": 30, "gb_acc": 16, "ge": [26, 44], "genbank": 16, "genbank_acc": 16, "gene": [6, 15, 17, 23, 26, 27, 29, 30, 34, 36, 40, 45], "gene_coordinate_servic": 17, "gene_id": 15, "gene_nam": 15, "gene_symbol": 15, "genecoordinateservic": [0, 17], "gener": [1, 2, 3, 5, 7, 15, 17, 19, 21, 23, 26, 30, 33, 41], "general_hpo_term": 2, "genet": 21, "genit": 31, "genitourinari": 31, "genom": [6, 15, 17, 21, 23, 30, 32, 34, 45], "genome_build": [17, 23, 30, 34], "genome_build_id": 16, "genomebuild": [15, 16, 17], "genomebuildidentifi": [15, 16], "genomicinterpret": 17, "genomicregion": [15, 16, 34], "genotyp": [0, 1, 2, 3, 4, 5, 8, 9, 10, 11, 15, 17, 21, 24, 30, 31, 33, 36, 38, 41, 43, 45], "genotype_for_sampl": 15, "genotypepolypred": [1, 2, 3, 5, 6, 8, 10, 41], "gestat": [11, 15, 37], "gestational_dai": 15, "get": [1, 2, 3, 4, 5, 6, 7, 8, 10, 11, 13, 15, 16, 17, 18, 19, 33, 35], "get_annot": 17, "get_cache_dir_path": [0, 13, 17], "get_categor": [5, 7, 25, 27], "get_categori": 5, "get_category_nam": 5, "get_cds_region": [15, 34], "get_coding_base_count": [15, 34], "get_codon_count": [15, 34], "get_excluded_count": 15, "get_features_variant_overlap": 15, "get_five_prime_utr": [15, 34], "get_hgvs_cdna_by_tx_id": 15, "get_maximum_group_observed_hpo_frequ": 2, "get_number_of_observed_hpo_observ": 2, "get_patient_id": 15, "get_preferred_tx_annot": 15, "get_quest": 6, "get_respons": 17, "get_three_prime_utr": 15, "get_tx_anno_by_tx_id": 15, "get_variant_by_kei": [15, 45], "gg": [15, 17], "git": 22, "github": [22, 41], "give": [6, 34], "given": [2, 6, 7, 10, 15, 17, 18, 19, 37, 40], "gland": 31, "glial": 31, "gln151ter": 23, "gln302argfster92": [23, 30], "gln315argfster79": [23, 30], "gln421ter": 15, "gln456ter": 23, "gln49ly": 23, "global": [21, 37], "globe": 31, "glossari": 33, "glu294ter": [23, 30], "glucagon": 31, "glucocorticoid": 31, "glucos": 31, "gly125alafster25": 23, "gly195ala": 23, "gly80arg": [23, 30], "glycolipid": 31, "glycoprotein": 31, "glycosaminoglycan": 31, "glycosyl": 31, "go": 15, "gonadotropin": 31, "good": [23, 34], "gov": 29, "gp": 23, "gpc": 33, "gpsea": [20, 22, 23, 24, 25, 26, 27, 28, 29, 30, 32, 33, 34, 36, 37, 38, 40, 41, 42, 43, 44, 45], "gpsea_cach": [13, 17], "gpsea_cachedir": 13, "gpseajsondecod": [0, 14, 25, 26, 27, 28, 30, 34, 45], "gpseajsonencod": [0, 14, 34], "gpseareport": [0, 19, 30], "granulocytopoiet": 31, "graph": [7, 26], "graphic": [19, 26, 30], "grch37": [16, 17, 34], "grch38": [15, 16, 17, 23, 30, 32, 34], "great": 35, "greater": 35, "grid": [27, 28], "group": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 23, 24, 25, 28, 29, 33, 34, 37, 39, 41, 45], "group1": 27, "group2": 27, "group_label": [5, 23, 25, 26, 27, 28, 36, 38, 40, 43, 44], "growth": [31, 34], "gt": 15, "gt_col": 1, "gt_id_to_nam": [25, 27], "gt_predic": [1, 2, 3, 8, 10, 23, 25, 26, 27, 28, 36, 38, 43, 44], "guid": [21, 23, 34], "h": [15, 35], "h_1": 4, "ha": [1, 2, 3, 6, 7, 8, 10, 11, 15, 16, 23, 26, 27, 30, 31, 34, 37], "had": [2, 23, 30], "hair": 31, "hallmark": 7, "hand": [23, 26, 31, 34, 37], "handl": [5, 18, 19], "happen": 3, "harbor": [27, 36, 44], "has_sv_info": 15, "has_variant_coordin": 15, "hashabl": 15, "have": [2, 8, 15, 26, 34, 35, 37, 44], "head": [25, 27, 28, 31], "health": 21, "hear": 27, "heart": [23, 26, 27, 31, 37], "height": 31, "helic": 15, "help": 23, "hematocrit": 31, "hemizyg": 15, "hemoglobin": 31, "henc": [22, 26], "hepat": 31, "hepatobiliari": 31, "here": [1, 6, 16, 23, 27, 28, 32, 34, 37, 40, 41, 44], "hereditari": 34, "heterozyg": [15, 26, 36, 39], "heterozygot": 29, "heurist": [2, 23, 31, 35], "hgnc": [15, 17], "hgv": [15, 17, 19], "hgvs_cdna": 15, "hgvs_coordinate_find": 17, "hgvsp": 15, "hierarch": 31, "hierarchi": [2, 28, 37, 40], "high": 15, "higher": [26, 27, 37], "highest": 15, "hip": 31, "his1435arg": 45, "his220del": 23, "his445metfster137": 23, "histidin": 45, "histori": 35, "hkd": 30, "hmf01": [23, 26], "hmf02": 2, "hmf03": 2, "hmf05": 2, "hmf07": 2, "hmf08": [2, 23, 26], "hmf09": [23, 26], "ho": 35, "hochberg": [1, 3, 23, 26, 35], "holm": 35, "holt": [23, 30, 45], "homeostasi": 31, "hommel": 35, "homo": 6, "homovanil": 31, "homozygot": 29, "homozygous_altern": 15, "homozygous_refer": 15, "honeydew": 8, "hormon": 31, "how": [16, 22, 23, 24, 34, 40, 45], "howev": [5, 10, 16, 22, 23, 26, 32, 39, 41, 45], "hp": [1, 2, 3, 7, 8, 15, 17, 23, 26, 27, 28, 30, 31, 35, 37, 40], "hpo": [2, 3, 7, 8, 11, 15, 17, 19, 21, 25, 26, 28, 30, 33, 34, 37, 41, 42], "hpo_mtc": 35, "hpo_onset": [10, 11, 28], "hpomtcfilt": [1, 2, 3, 23, 26, 35], "hpopred": [5, 7, 40], "hpotermanalysi": [1, 3, 26, 35, 40], "hpotermanalysisresult": [1, 3, 19], "hpotk": [2, 3, 23, 26, 27, 28, 30, 34, 35, 37, 40], "html": 19, "http": [22, 29], "human": [2, 15, 16, 19, 21, 30, 34, 37], "humor": 31, "hundr": 35, "hypertelor": 37, "hypoplasia": [23, 26, 30], "hypospadia": 37, "hypothalamu": 31, "hypothes": [26, 30, 33, 34, 35], "hypothesi": [2, 12, 23, 26, 30, 35], "i": [0, 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 21, 22, 23, 26, 27, 28, 29, 30, 31, 32, 34, 35, 36, 37, 39, 40, 41, 43, 44, 45], "id": [1, 5, 6, 7, 8, 10, 15, 17, 19, 23, 30, 31, 32, 34, 39], "ident": 29, "identifi": [1, 6, 8, 15, 16, 23, 28, 30, 31, 34, 37, 38], "idividu": 26, "idx": 2, "ignor": [9, 17, 34], "ii": 31, "ile106v": 23, "ile227_glu228inst": 23, "ile54thr": 23, "illustr": [23, 26], "img": 34, "immun": 31, "impair": 27, "implement": [4, 6, 10, 14, 17, 24, 26, 29, 33, 34, 37, 43, 44, 45], "implementor": 15, "impli": [7, 26, 32, 35], "implicitli": [32, 40], "import": [4, 6, 8, 15, 16, 23, 25, 26, 27, 28, 30, 32, 34, 35, 36, 37, 38, 40, 43, 44, 45], "impos": 4, "imposs": [8, 10, 28], "imprecis": [15, 17], "imprecise_sv_functional_annot": 17, "imprecisesvfunctionalannot": [0, 17], "imprecisesvinfo": [0, 15, 17], "includ": [1, 2, 3, 4, 5, 6, 7, 8, 10, 15, 16, 17, 19, 21, 23, 25, 26, 27, 28, 33, 34, 36, 39, 40, 44], "include_computational_tx": 17, "include_ontology_class_onset": 17, "include_patients_with_no_hpo": 15, "include_patients_with_no_vari": 15, "inclus": [6, 39, 45], "incomplete_terminal_codon_vari": 15, "increas": [23, 26, 30], "indel": 15, "indent": [14, 17], "independ": 35, "index": [1, 6, 8, 10, 15, 22, 28, 31, 44], "indic": [1, 3, 15, 44], "indirect": [23, 26, 35], "individu": [1, 2, 3, 5, 6, 7, 8, 10, 11, 12, 15, 21, 23, 25, 26, 27, 28, 29, 30, 32, 34, 35, 37, 38, 39, 40, 41, 43, 44, 45], "infer": 23, "inflammatori": 31, "info": [2, 3, 6, 15, 17, 23, 26, 30, 32, 45], "inform": [6, 10, 15, 19, 21, 23, 30, 33, 34, 35, 37, 41], "infram": 23, "inframe_delet": [15, 23, 30], "inframe_insert": [15, 23, 30], "ingest": 21, "inherit": [25, 35, 39], "inhibin": 31, "initi": [7, 15, 22], "inner": [6, 31], "input": [2, 17, 18, 19, 21, 23, 30, 33], "insert": [15, 17, 23, 32], "insight": [23, 31, 34], "instal": [21, 34], "instanc": [2, 4, 5, 6, 7, 8, 15, 17, 26, 27, 29, 30, 32, 34, 35, 36, 37, 40, 44, 45], "instanti": 34, "instead": [6, 15, 35, 44], "instruct": [21, 25, 26, 27, 28, 45], "insulin": 31, "int": [1, 2, 3, 4, 5, 6, 15, 16, 17, 19], "integ": 15, "integr": [22, 30, 34], "integu": 31, "intellectu": [27, 37], "intend": [8, 15], "inter": [27, 41], "interact": [15, 19, 33], "interest": [6, 7, 15, 17, 23, 26, 30, 31, 33, 35, 44], "intergenic_vari": [15, 17], "intern": 15, "internet": 22, "interpret": [17, 18, 27, 39], "intersect": 16, "interspers": 15, "interv": 16, "intestin": 31, "intracrani": 31, "intraocular": 31, "intrauterin": 37, "introduct": 33, "intron": [15, 23], "intron_vari": [15, 17, 23, 30, 45], "inv": 15, "invers": [6, 15, 45], "investig": [7, 8, 10, 15, 23, 25, 43], "invoc": 22, "involv": [15, 23, 26, 34, 35], "io": [0, 15, 17, 18, 19, 25, 26, 27, 28, 30, 34, 45], "iobas": [15, 18, 19], "ion": 31, "ip3": 15, "ipython": [19, 30], "iqr": 27, "is_al": 15, "is_censor": [10, 28], "is_cod": [15, 34], "is_deceas": 15, "is_empti": 16, "is_femal": 15, "is_filtered_out": 2, "is_frameshift": [26, 44], "is_gest": 15, "is_in_exon3": 28, "is_large_imprecise_sv": 6, "is_mal": 15, "is_missens": [25, 44], "is_neg": 16, "is_observ": 15, "is_ok": 17, "is_pass": 2, "is_posit": 16, "is_postnat": 15, "is_pref": 15, "is_pres": 15, "is_provid": 15, "is_structur": 15, "is_structural_delet": 6, "is_structural_vari": 6, "is_unknown": 15, "islet": 31, "iso8601": 15, "iso8601pt": 15, "isoform": [15, 34], "issu": [2, 15, 17, 21, 23, 34, 41], "item": [2, 3, 5, 17, 19, 32], "iter": [1, 2, 3, 5, 6, 7, 8, 10, 12, 14, 15, 16, 17, 19, 35], "iter_cohort_phenopacket": [23, 34, 40], "its": [7, 11, 15, 19, 27, 32, 40, 41, 45], "j": 3, "jinja2": 19, "joint": 31, "jordan": 27, "json": [14, 15, 17, 25, 26, 27, 28, 30, 45], "jsondecod": 14, "jsonencod": 14, "jt": 29, "judgment": [31, 35], "jupyt": [19, 21, 30], "just": [15, 17, 19, 23, 25, 26, 34], "juvenil": 17, "k": 44, "keep": 7, "kei": [6, 15, 21, 23, 30], "kidnei": [8, 27, 28], "kind": [17, 29, 33], "know": [11, 15, 16, 17, 34], "known": [11, 15, 30, 40], "kwarg": 14, "lab": 25, "label": [6, 8, 11, 15, 19, 25, 28, 31, 34, 38], "label_summari": 15, "labeling_method": 19, "laboratori": 27, "lack": [7, 10, 17, 35], "lactat": 31, "lambda": 28, "langerhan": 31, "larg": [6, 15, 16, 17, 31], "larger": 15, "last": [10, 11, 13, 15, 23, 26, 27, 30], "last_menstrual_period": 15, "later": [25, 26, 27, 28, 33, 45], "latest": 23, "lead": [6, 15, 23, 26, 27, 31, 32, 35, 36, 45], "learn": [23, 26], "least": [2, 6, 17, 23, 26, 27, 35, 41, 44, 45], "leav": [21, 34], "left": 16, "legend": [10, 19, 25], "leigh": 15, "len": [15, 23, 25, 26, 27, 28, 30, 32, 34, 35, 40, 45], "length": [6, 15, 16, 27, 30, 33, 45], "lenient": 17, "lenti": [38, 40], "leptin": 31, "less": [1, 3, 6, 23, 26, 35], "let": [14, 15, 26, 27, 28, 32, 34, 35, 36, 44, 45], "letter": 34, "leu435argfster147": 23, "leu65glnfster10": 23, "leu94arg": 23, "leukocyt": 31, "level": [1, 3, 8, 15, 26, 27, 30, 31, 34, 45], "leverag": [2, 28, 30, 34, 37, 40, 45], "li": [16, 29], "librari": [0, 16, 22, 24, 34], "life": 26, "like": [14, 19, 21, 31, 35], "limb": [23, 26, 31], "limit": [2, 35, 37], "line": [15, 22, 27, 28], "lineag": 31, "link": 39, "liposaccharid": 31, "list": [6, 7, 8, 14, 15, 23, 26, 31, 40, 41], "list_all_diseas": 15, "list_all_protein": 15, "list_all_vari": 15, "list_measur": 15, "list_present_phenotyp": 15, "liter": [1, 3, 6, 11, 15, 17, 19, 32], "literatur": [6, 23], "liver": [8, 31], "ll": 34, "lmna": 36, "load": [14, 17, 30, 37, 40], "load_minimal_hpo": [23, 26, 27, 28, 30, 34, 35, 37, 40], "load_phenopacket": [0, 17, 23, 34, 40], "load_phenopacket_fil": [0, 17, 34], "load_phenopacket_fold": [0, 17, 34], "loader": 34, "local": [17, 18, 30], "locat": [15, 16, 17, 21, 23, 30, 31, 34, 45], "locu": [15, 44], "lof": 27, "lof_effect": 27, "lof_mut": 27, "log": [12, 28, 30, 42], "logic": [35, 37, 45], "logrank": 12, "logranktest": [10, 12, 28], "loinc": [8, 15, 25], "long": 26, "loss": [15, 27, 44], "lost": 11, "lower": [26, 31, 45], "lump": 44, "ly": 27, "lymph": 31, "lymphat": 31, "lymphocyt": 31, "lys226asn": 23, "lys88ter": 23, "lysosom": 31, "m": [4, 15, 22], "macrocephali": 37, "macroscop": 31, "made": [23, 35], "magic": 30, "mai": [3, 8, 10, 15, 17, 26, 27, 30, 34, 35, 36, 44, 45], "main": [23, 27, 34], "major": [16, 41], "major_assembli": 16, "major_formatt": 28, "major_loc": 28, "make": [6, 30, 35], "male": [15, 23, 30, 43], "mandatori": 15, "mane": [15, 23, 25, 26, 27, 28, 34, 45], "mane_pt_id": 34, "mane_tx_id": 34, "mani": [23, 24, 30, 31, 33, 34, 35, 40, 41, 45], "manifest": [21, 34], "mann": [8, 9, 24, 30, 33, 37, 42], "mannwhitneystatist": [8, 9, 27], "mannwhitneyu": [9, 27], "manual": [15, 26, 30], "map": [2, 15, 17, 19], "marfan": 38, "marker": [19, 31], "marker_count": 19, "marrow": 31, "mass": [8, 15, 25, 27, 31], "match": [6, 8, 11, 27, 39], "matern": 29, "math": 8, "matplotlib": [8, 10, 19, 23, 27, 28, 30, 34], "matrix": [2, 3], "matur": 31, "mature_mirna_vari": 15, "maxim": 41, "maximum": [2, 23, 26, 37], "me": 15, "mean": [15, 26, 27, 31, 35], "meaning": 5, "measur": [0, 8, 15, 24, 27, 30, 31, 33], "measurement_by_id": 15, "measurementphenotypescor": [1, 8, 25, 27], "median": 27, "mediastinum": 31, "medic": [21, 31, 35], "medicin": 21, "meet": [6, 15, 27, 39, 45], "megakaryocyt": 31, "member": [10, 15, 17, 26, 28, 34, 35], "membran": 31, "mendelian": 21, "menstrual": 15, "mental": 31, "mesenteri": 31, "messag": 14, "met": 45, "met74il": 23, "met83phefster6": 23, "meta_label": [15, 34], "metabol": 31, "metabolit": 31, "metadata": [17, 19], "metaphysi": 31, "method": [2, 3, 6, 7, 14, 15, 16, 17, 23, 26, 27, 34, 35], "mhc": 31, "micro": 37, "microcephali": 37, "middl": 31, "midpoint": 17, "midwif": 15, "might": [29, 30], "mild": [37, 44], "mim": 23, "miner": 31, "minimalontologi": [2, 3, 7, 8, 11, 17, 19, 40], "minimalterm": 15, "minimum": 2, "mininum": 35, "miss": [10, 11, 17, 41], "missens": [1, 2, 3, 6, 15, 21, 25, 26, 27, 29, 32, 35, 39, 44, 45], "missense_and_exon20": 45, "missense_or_nonsens": 45, "missense_vari": [1, 3, 6, 15, 23, 25, 27, 30, 44, 45], "missing_implies_exclud": 7, "missing_implies_phenotype_exclud": 7, "mitig": [26, 35], "mitochondrion": 31, "mixin": 16, "mnv": 15, "mode": [17, 35, 39], "model": [0, 2, 6, 23, 25, 26, 27, 28, 30, 32, 34, 44, 45], "moder": 37, "modifi": 35, "modul": [0, 15, 16, 26, 27, 30, 34], "moment": 17, "monarch": 22, "mondo": 7, "monoallel": [6, 28], "monoallelic_pred": [5, 6, 23, 26, 27, 28, 44], "monophenotypeanalysisresult": [0, 1, 8, 10], "month": 15, "more": [1, 2, 3, 6, 8, 9, 12, 15, 17, 19, 22, 23, 26, 27, 30, 31, 33, 34, 37, 38, 44, 45], "morpholog": 31, "morphologi": [8, 21, 23, 26, 27, 30, 31, 32, 35, 37, 40], "mortal": 30, "most": [15, 16, 19, 23, 30, 31, 34, 35, 41], "mostli": [15, 41], "motif": [15, 21], "motil": 31, "motor": [23, 31], "movement": 31, "mpl": 28, "mri": 31, "mt": [2, 23, 26, 33], "mtc": [2, 3, 19, 23, 26, 31, 33, 35], "mtc_alpha": [3, 26], "mtc_correct": [1, 3, 26, 35], "mtc_filter": [1, 3, 26, 35], "mtc_filter_nam": 3, "mtc_filter_result": 3, "mtc_issu": 2, "mtc_report": [23, 26], "mtc_viewer": [23, 26], "mtcstatsview": [0, 19, 23, 26], "much": [2, 30, 31, 35, 45], "mucociliari": 31, "mucosa": 31, "mucu": 31, "multi": [15, 45], "multiphenotypeanalysi": [1, 3], "multiphenotypeanalysisresult": [0, 1, 3], "multipl": [1, 2, 3, 23, 26, 31, 33, 45], "multipleloc": 28, "multipli": 35, "muscl": 31, "muscular": 26, "musculatur": 31, "musculoskelet": 31, "must": [2, 3, 5, 6, 7, 8, 10, 15, 17, 22, 26, 27, 30, 34, 38, 41, 44, 45], "mutat": [23, 25, 26, 27, 28, 30, 34, 40, 44, 45], "mutlipl": 35, "myelin": 31, "myeloid": 31, "n": [2, 4, 6, 15, 23, 30, 31, 40], "n_categor": 5, "n_filtered_out": 3, "n_significant_for_alpha": [1, 3], "n_usabl": [1, 2, 3], "nacgtacgtac": 15, "nail": 31, "name": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 13, 15, 16, 17, 23, 25, 27, 28, 30, 34, 38, 40, 44], "nan": [1, 3, 8, 9, 10, 25, 27], "nanogram": 15, "nasal": [31, 37], "natur": 15, "nc_000001": 16, "ncbi": [23, 29], "ncit": 15, "ndarrai": 19, "neck": 31, "need": [15, 17, 23, 26, 28, 33, 34, 35, 40, 44], "neg": [6, 15, 16, 17, 32], "neoplasm": 31, "neopterin": 31, "neq": 44, "nerv": 31, "nervou": [31, 32, 35], "net": 15, "network": 34, "neuron": 31, "never": [16, 35], "new": 19, "next": [23, 34, 36, 45], "ng": 15, "nih": 29, "nippl": 31, "nlm": 29, "nm_000500": 25, "nm_001042681": [27, 45], "nm_002834": 17, "nm_003361": 28, "nm_005912": 17, "nm_013275": 45, "nm_123": 6, "nm_1234": [6, 44], "nm_123456": [1, 3, 6, 15], "nm_170707": 15, "nm_181486": [23, 26, 30, 34], "nmd_transcript_vari": 15, "no_cal": 15, "no_genotype_has_more_than_one_hpo": 2, "node": 31, "nomin": [1, 3, 23, 26, 35], "non": [2, 3, 6, 10, 15, 17, 23, 26, 27, 35, 45], "non_coding_transcript_exon_vari": [15, 17], "non_coding_transcript_vari": [15, 17], "non_frameshift_del": 45, "non_frameshift_effect": 45, "non_frameshift_pred": 45, "non_specified_term": 2, "noncoding_effect": 17, "none": [1, 2, 3, 4, 5, 6, 7, 8, 10, 11, 13, 14, 15, 16, 17, 19, 23, 27, 28, 34, 35, 37, 41, 44], "nonfaci": 37, "nons": 29, "nonsens": [2, 3, 6, 25, 26, 29, 35, 45], "normal": 21, "nose": 37, "notat": [15, 32], "note": [2, 3, 7, 13, 15, 16, 23, 26, 34, 37, 38, 43, 44, 45], "notebook": [19, 21, 30], "notepad": 17, "noth": 45, "novel": 15, "now": [15, 23, 25, 26, 27, 28, 34, 35, 40, 44], "np_": 23, "np_000129": 15, "np_001027558": 17, "np_001027559": 15, "np_037407": 17, "np_852259": [23, 30, 34], "nuclear": 15, "nucleobas": 31, "nucleotid": [15, 23, 32, 45], "nucleu": 35, "nul": 15, "null": 35, "number": [1, 2, 3, 4, 5, 6, 8, 15, 16, 23, 26, 27, 28, 31, 35, 37], "numer": [15, 30], "o": 14, "obj": 14, "object": [1, 2, 3, 6, 8, 10, 14, 15, 16, 17, 19, 34], "object_hook": 14, "observ": [2, 8, 15, 21, 23, 26, 30, 40], "observablefeatur": 15, "obtain": [15, 17, 23, 34, 35, 37], "obvious": 30, "occipitofrontali": 31, "occur": [15, 23, 27, 30, 34], "occurr": 23, "oddsratio": 26, "odontoid": 31, "off": [41, 45], "offer": [24, 30, 35, 37, 42, 45], "offlin": 17, "often": 15, "ok": [2, 17], "oldest": 35, "omim": [7, 8, 23, 30, 38], "omit": [2, 23, 26, 35, 38, 41, 43, 44], "onc": [26, 34], "one": [2, 5, 6, 7, 8, 15, 17, 22, 23, 26, 27, 28, 29, 30, 31, 34, 36, 37, 41, 44], "one_genotype_has_zero_hpo_observ": 2, "ones": 17, "onli": [2, 5, 6, 7, 15, 17, 23, 26, 29, 30, 35, 40], "onlin": 22, "only_hgv": 19, "onset": [10, 11, 15, 17, 23, 28, 30, 31, 32], "onsetawar": 15, "onto": 19, "ontologi": [2, 3, 7, 15, 17, 21, 23, 32, 34, 37], "ontology_class": 17, "ontologyclass": 17, "oocyt": 31, "open": [18, 25, 26, 27, 28, 30, 34, 41, 45], "open_phenopacket_stor": [23, 34, 40], "open_text_io_handle_for_read": [0, 18], "open_text_io_handle_for_writ": [0, 18], "oper": [6, 15, 45], "oppos": 15, "opposit": 16, "option": [2, 6, 7, 15, 17, 22, 23, 34, 35, 40, 44], "oram": [23, 30, 45], "order": [2, 15, 23, 26, 30, 34, 44], "organ": [15, 27, 31], "orgogozo": 21, "origin": 37, "orthogon": 39, "osmol": 31, "osteocalcin": 31, "other": [2, 15, 16, 17, 19, 21, 23, 25, 26, 28, 29, 34, 35, 36, 37, 39, 44], "otherwis": [6, 7, 10, 15, 37], "our": [23, 24, 26, 28, 31, 35, 37, 41], "out": [2, 3, 5, 16, 17, 23, 26, 27, 28, 32, 34, 35], "outcom": [1, 3], "outer": [6, 31], "output": [17, 18, 19], "over": 15, "overal": [2, 35], "overlap": [3, 6, 15, 16, 19, 28, 45], "overlapping_exon": 15, "overlaps_with": [15, 16], "overlaps_with_fifth_aa": 6, "overlaps_with_first_20": 6, "overload": [15, 45], "overrepres": 15, "overview": [23, 24, 30], "own": 16, "p": [1, 2, 3, 4, 7, 8, 9, 12, 15, 19, 21, 23, 26, 30, 34, 35, 40, 45], "p10y": 15, "p10y4m2d": 15, "p13": [16, 17], "p22w3d": 15, "p2w6d": 15, "p_valu": [26, 27], "packag": [20, 21, 22, 35], "page": [15, 23, 30, 33, 41], "pair": [3, 4, 6, 12, 15, 32], "pancrea": 31, "pancreat": 31, "panda": [2, 15, 34], "param": [6, 15, 16, 17], "paramet": [1, 2, 3, 5, 6, 7, 8, 10, 12, 14, 15, 16, 17, 18, 19], "parametr": 27, "parathyroid": 31, "parent": [3, 17, 35, 37], "pars": [15, 17], "parse_multipl": 17, "parse_respons": 17, "parse_uniprot_json": 17, "parser": 17, "part": [1, 15, 19, 34, 37], "particular": 30, "partit": [1, 5, 6, 7, 8, 10, 25, 36, 41, 43], "pass": [2, 6, 14, 15, 32, 35], "past": 35, "patch": [8, 16], "patern": 29, "path": [13, 15, 17, 18, 19, 23, 26, 33, 34, 40], "pathogen": [23, 34, 45], "patient": [0, 1, 2, 3, 5, 6, 7, 8, 10, 15, 17, 19, 21, 23, 26, 27, 34, 35, 36, 40, 41], "patient_1": 10, "patient_2": 10, "patient_3": 10, "patient_4": 10, "patient_cr": 17, "patient_id": [10, 15, 25, 27, 28], "patientcategori": [5, 7], "patientcr": [0, 17], "pattern": 31, "payload": 17, "pcat": [1, 23, 26, 35], "pd": [15, 34], "pediatr": 17, "pehnotyp": 2, "peptid": 31, "per": 15, "percent": [23, 26, 30], "percentag": 35, "perform": [4, 15, 17, 21, 23, 26, 27, 29, 30, 33, 34, 35], "perifollicular": 31, "period": 15, "peripher": 31, "peritoneum": 31, "permiss": [17, 34], "peroxisom": 31, "persist": [25, 26, 27, 28, 33, 45], "ph": [30, 31], "ph_col": 1, "ph_predic": 2, "phagocytosi": 31, "phe168leufster6": 23, "pheno_pred": [1, 3, 23, 26, 40], "pheno_scor": [8, 25, 27, 37], "phenopacket": [15, 17, 21, 23, 25, 26, 27, 28, 30, 33, 40, 45], "phenopacket1": 34, "phenopacket2": 34, "phenopacket_registri": 23, "phenopacketontologytermonsetpars": [0, 17], "phenopacketpatientcr": [0, 17], "phenopacketvariantcoordinatefind": [0, 17], "phenotyp": [0, 1, 2, 3, 4, 5, 8, 9, 10, 11, 15, 17, 21, 24, 28, 30, 31, 33, 37, 39, 41, 45], "phenotype_by_id": 15, "phenotype_cr": 17, "phenotype_scor": [8, 27], "phenotypecategor": [5, 7], "phenotypemtcfilt": [1, 2, 3, 23, 35], "phenotypemtcissu": [1, 2], "phenotypemtcresult": [1, 2, 3], "phenotypepolypred": [1, 2, 3, 5, 7, 41], "phenotypescor": [1, 8, 9], "phenotypescoreanalysi": [1, 8, 25, 27, 28], "phenotypescoreanalysisresult": [1, 8], "phenotypescorestatist": [8, 9], "phenotypic_abnorm": 2, "phosphat": 31, "physician": 15, "physiolog": 31, "physiologi": [21, 31, 32], "pick": 26, "pickl": 17, "piec": 15, "piezo1": 34, "pineal": 31, "pinna": 37, "pip": 22, "pituitari": 31, "place": [21, 34], "placent": 31, "placenta": 31, "plan": 30, "plasma": [8, 15, 25, 27], "plate": 34, "platelet": 31, "platysma": 31, "pld1": 30, "pleas": [30, 41], "plot": [8, 10, 19, 28, 33], "plot_boxplot": [8, 27], "plot_kaplan_meier_curv": [10, 28], "plt": [19, 23, 27, 28, 30, 34], "plu": [6, 15], "pm": [23, 34], "pm_servic": 30, "pmid": 23, "pmid_22034507_aii_1": 28, "pmid_22034507_aii_2": 28, "pmid_22034507_aii_3": 28, "pmid_22034507_aii_5": 28, "pmid_22034507_aiii_4": 28, "pmid_27087320_subject_1": 27, "pmid_27087320_subject_10": 27, "pmid_27087320_subject_2": 27, "pmid_29330883_subj": 34, "pmid_29330883_subject_1": 27, "pmid_29330883_subject_2": 27, "pmid_30968594_individual_10": 25, "pmid_30968594_individual_11": 25, "pmid_30968594_individual_12": 25, "pmid_30968594_individual_13": 25, "pmid_30968594_individual_14": 25, "png": 34, "po": [15, 16, 28, 32], "point": [15, 17, 27, 34, 37], "point_mut": 27, "point_mutation_effect": 27, "polar": [34, 35], "polici": [17, 23, 34], "polypred": [1, 5, 6, 7], "pore": 34, "port": 16, "posit": [3, 6, 15, 16, 17, 23, 26, 30, 32, 35], "posixpath": 13, "possibl": [2, 3, 5, 8, 29, 30, 34, 43], "possible_result": 2, "possibli": 39, "posterior": [31, 35], "postnat": [11, 15], "postnatal_dai": 15, "postnatal_year": 15, "potassium": 30, "potenti": [27, 33], "power": [33, 35, 41], "pp": 17, "pp_dir": 34, "pp_directori": 17, "pp_file": 17, "pp_file_path": 34, "ppktstore": [23, 34, 40], "practic": 29, "pre": [2, 3], "precis": 21, "precursor": 31, "predic": [1, 2, 3, 4, 8, 10, 33, 36, 38, 43], "predict": [6, 15, 23, 26, 27, 34, 44, 45], "predictor": [17, 34], "prefer": [15, 30], "preimplant": 31, "prematur": 21, "prenat": 31, "prepar": [3, 6, 7, 15, 17, 25, 26, 27, 28, 34, 36, 45], "prepare_hpo_terms_of_interest": [5, 7], "prepare_predicates_for_terms_of_interest": [5, 7, 23, 26, 40], "preprocess": [0, 15, 23, 30, 34, 40], "preprocessingvalidationresult": [0, 17, 34], "preproprotein": 15, "prerequisit": 37, "presenc": [1, 3, 6, 7, 15, 23, 26, 27, 30, 34, 35, 36, 39, 40, 45], "present": [1, 3, 7, 8, 15, 16, 19, 23, 26, 27, 30, 37, 38, 44], "present_diseas": 15, "present_phenotyp": 15, "present_phenotype_categor": 7, "present_phenotype_categori": 7, "pressur": 31, "pretti": 19, "prevent": [2, 3, 45], "previou": [35, 44], "previous": 26, "primari": [15, 31, 45], "principl": 29, "print": [15, 17, 34], "pro139glnfster11": 23, "pro14thr": [23, 30], "pro85thr": 23, "probabl": [26, 35], "problem": 35, "proce": 17, "procedur": [23, 26, 31, 33], "process": [17, 19, 23, 26, 30, 34, 40], "process_respons": 17, "produc": [1, 2, 4, 5, 7, 8, 30], "product": 19, "profound": 37, "programmat": [6, 17], "programmaticali": 34, "project": 15, "prolifer": 31, "prong": [26, 41], "pronounc": 21, "propagatingphenotypepred": 7, "properti": [1, 2, 3, 4, 5, 7, 8, 10, 15, 16, 17, 19], "proport": 35, "protcachingmetadataservic": [0, 17], "protein": [6, 15, 16, 17, 19, 21, 31, 33, 45], "protein_altering_vari": 15, "protein_cach": 17, "protein_effect_coordin": 15, "protein_effect_end": 15, "protein_effect_loc": 15, "protein_effect_start": 15, "protein_featur": [6, 15, 34], "protein_feature_end": 19, "protein_feature_nam": 19, "protein_feature_start": 19, "protein_feature_typ": [6, 19], "protein_id": [15, 17, 19, 34], "protein_length": [15, 19, 34], "protein_meta": [15, 19, 23, 30, 34], "protein_metadata": [6, 19, 30], "protein_sourc": 17, "proteinannotationcach": [0, 17], "proteinfeatur": [0, 15], "proteinmetadata": [0, 6, 15, 17, 19, 23, 34], "proteinmetadataservic": [0, 17, 34], "proteinpred": 41, "proteinvariantview": [0, 19, 30], "proteinvisu": [0, 19, 23, 30, 34], "proteinvisualiz": [0, 19, 34], "provid": [1, 2, 3, 6, 7, 8, 10, 11, 12, 15, 16, 17, 19, 21, 23, 24, 27, 30, 33, 35, 37, 40, 41, 44], "proxi": 37, "pscore": [1, 25, 27, 37], "pt_id": 30, "publish": [22, 40], "pubm": 29, "pulmonari": 31, "pupillari": 31, "purin": 31, "purpos": [2, 25, 26, 28, 30, 34, 35, 45], "put": [15, 25, 27, 28], "putamen": 35, "pval": [1, 3, 8, 10, 25, 27, 28], "pval_kind": [1, 3], "pvalu": 27, "pvi": [19, 34], "px": 30, "px_id": 23, "py": 15, "pydoc": 34, "pypi": 22, "pyplot": [23, 27, 28, 30, 34], "pyrimidin": 31, "pytest": 22, "python": [4, 14, 21, 22, 26, 30, 34, 35, 45], "python3": 22, "q": [23, 34], "q1": 27, "q3": 27, "q99593": 34, "qc_result": 34, "qual": [15, 32], "qualnam": [15, 16], "quartil": 27, "queri": [7, 8, 15, 17, 27, 34, 40], "question": [6, 21, 24, 45], "r": 27, "radiu": [23, 26, 30], "rais": [5, 14, 15, 16, 17], "random": [4, 15], "random_se": 19, "rang": [2, 15, 17, 27, 37], "rank": [9, 12, 27, 28, 30, 42], "rare": [0, 2, 23, 34, 40], "rate": [23, 31, 35], "rather": 31, "ratio": 31, "re": 15, "reach": 17, "read": [18, 19, 21, 45], "readabl": [15, 19], "reader": 34, "readi": [15, 23], "readili": 34, "real": [25, 26], "realiz": 35, "realli": 34, "reason": [2, 23, 26, 31, 34], "receiv": 23, "receptor": 34, "recess": 44, "recommend": [2, 6, 15, 21, 23, 26, 30, 34, 35, 40], "record": [15, 23, 30, 40], "red": [27, 31], "redox": 31, "reduc": [2, 23, 26, 34, 35], "redund": 35, "ref": [6, 15, 19, 32], "ref_length": [6, 27], "refer": [6, 15, 21, 27, 31, 33, 34, 37], "reflect": 41, "reflex": 31, "refract": 31, "refseq": [15, 16, 17, 34], "refseq_nam": 16, "regard": [2, 10, 15, 19], "regardless": 15, "region": [6, 15, 16, 19, 23, 30, 32, 34, 45], "registri": [23, 34, 40], "regul": [30, 31], "regulatory_region_abl": 15, "regulatory_region_amplif": 15, "regulatory_region_vari": 15, "rel": [6, 37], "relat": 35, "relationship": [21, 26], "releas": [23, 26, 27, 28, 30, 31, 34, 35, 37, 40], "relev": [2, 15, 23, 27, 34], "remot": [17, 34], "remov": [6, 31, 32, 45], "renal": [27, 28], "renin": 31, "repair": 31, "repeat": 15, "replac": 45, "report": [1, 3, 8, 10, 15, 17, 19, 21, 23, 25, 26, 27, 28, 30, 40], "repositori": 22, "repres": [1, 2, 3, 5, 6, 7, 8, 10, 15, 16, 17, 19, 21, 27, 34, 35], "represent": [15, 17], "reproduct": 31, "request": 17, "requir": [1, 4, 10, 15, 22, 23, 41], "requisit": 34, "rere": [27, 34, 45], "rere_mane_tx_id": 45, "residu": [6, 30, 34], "resolut": 15, "resourc": [6, 15, 17, 34], "respect": [3, 10, 15, 26, 32, 33, 34, 44, 45], "respir": 31, "respiratori": 31, "respons": [17, 27, 31, 34], "rest": [15, 17, 25, 31], "restrict": 29, "result": [1, 2, 3, 8, 10, 15, 17, 19, 21, 23, 25, 26, 27, 28, 30, 31, 34, 35, 40, 41, 45], "retain": 35, "retainin": 23, "reticulocyt": 31, "retriev": [15, 16, 17], "return": [2, 3, 4, 5, 6, 7, 8, 11, 14, 15, 16, 17, 18, 19, 35, 41], "reus": 44, "revers": 16, "right": [16, 19], "risk": 26, "rna": 16, "root": [2, 31, 35], "row": [1, 2, 3, 23], "rule": [5, 11, 23, 26, 30, 33, 40, 45], "run": [17, 25, 27, 28, 34], "runner": 17, "runonlin": 22, "rust": 15, "sai": 35, "salient": [19, 30], "salivari": 31, "same": [2, 3, 6, 12, 15, 16, 23, 26, 27, 31, 32, 34, 35, 37, 44], "same_count_as_the_only_child": 2, "sampl": [12, 15, 23], "sample_id": 15, "samplelabel": [0, 15], "sapien": 6, "save": 34, "savefig": 34, "scalp": 31, "scenario": 5, "schema": [15, 17, 19, 26, 34], "scienc": 6, "scientif": 30, "scipi": [4, 9, 12, 26, 27], "scipyfisherexact": 3, "sclera": 31, "score": [1, 8, 9, 12, 24, 30, 33, 42], "score_analysi": [25, 27], "score_statist": [8, 25, 27], "scorer": [8, 27], "screenshot": 34, "search": [17, 23, 31, 34, 41], "sebac": 31, "second": [6, 17, 30], "secondari": 15, "secret": 31, "section": [2, 3, 6, 7, 8, 15, 17, 23, 25, 26, 27, 28, 30, 35, 44, 45], "secundum": [23, 26, 30], "sediment": 31, "see": [2, 3, 6, 7, 8, 9, 10, 15, 19, 23, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 41, 44, 45], "seek": 39, "seem": 41, "seen": [15, 23, 27, 30, 35], "segment": [15, 31, 40], "segreg": 31, "seizur": [23, 32], "select": [2, 6, 10, 23, 26, 27], "self": [14, 16], "sens": [30, 31, 35], "sensat": 31, "sensibl": 30, "sensori": 31, "sensorineur": 27, "separ": [14, 26, 42], "septal": [23, 26, 30, 32], "septum": [23, 26, 32], "sequenc": [1, 2, 3, 4, 5, 6, 7, 9, 12, 15, 16, 17, 19, 33, 34], "sequence_vari": 15, "ser196ter": 23, "ser261ci": [23, 30], "ser36thrfster25": [23, 30], "serial": [25, 26, 27, 28, 45], "serializ": 14, "serum": [8, 15, 25, 27, 31], "serv": 41, "servic": 17, "set": [2, 8, 13, 15, 23, 26, 27, 28, 35, 36, 40, 44], "setup": [26, 30, 35], "sever": [3, 5, 15, 23, 25, 26, 27, 30, 32, 34, 35, 37, 42, 44, 45], "sex": [0, 6, 7, 8, 15, 23, 30, 31, 33, 39], "sex_pred": [5, 6, 43], "sh": 35, "sharpei": 31, "shelf": [27, 41, 45], "shift": 45, "ship": 34, "short": [15, 23, 26, 30, 37], "shortcut": 15, "shorter": [6, 26], "should": [2, 3, 6, 7, 13, 15, 16, 17, 19, 23, 25, 27, 34], "show": [15, 19, 25, 26, 27, 28, 30, 31, 32, 34, 35, 40, 41, 45], "shown": [23, 30, 33, 34], "sidak": 35, "side": [4, 12, 27], "sign": [15, 16, 23, 25, 26, 27], "signal": [31, 35], "signific": [1, 3, 15, 26, 27, 31, 35, 37], "significant_phenotype_indic": [1, 3], "significantli": [23, 26, 27], "sime": 35, "similar": [15, 27, 44], "similarli": [10, 40, 44], "simpl": [6, 22, 29, 32, 34, 37, 45], "simplest": 35, "simpli": [2, 35], "simplifi": [23, 26], "sinc": [3, 6, 15, 27], "sine": 15, "singl": [1, 2, 15, 23, 36, 45], "situ": 31, "size": [2, 15, 16, 30, 31], "skelet": 31, "skeleton": [23, 26], "skin": [8, 31], "skinfold": 31, "skip": [2, 23, 26, 31], "skipkei": 14, "skipping_general_term": 2, "skipping_non_phenotype_term": 2, "skipping_since_one_genotype_had_zero_observ": 2, "skull": 31, "slice": 16, "small": [32, 35, 37], "smell": 31, "snv": [15, 32, 45], "so": [6, 15, 27, 34, 35, 45], "so_term": 15, "softwar": 24, "sole": 26, "solut": 34, "somat": 31, "some": [1, 4, 17, 21, 22, 30, 34, 35, 36, 41], "some_cell_has_greater_than_one_count": 2, "sometim": [36, 44, 45], "sort": [15, 17], "sort_index": [25, 27, 28], "sort_kei": 14, "sound": [31, 40], "sourc": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 22, 45], "span": [6, 15, 16, 31, 32, 34], "specif": [3, 6, 15, 17, 21, 23, 27, 28, 30, 31, 34, 35, 40], "specifi": 2, "specified_term": 35, "specifiedtermsmtcfilt": [1, 2, 35], "specifytermsstrategi": 26, "spell": 32, "spinal": 31, "spleen": 31, "splice": [15, 23], "splice_acceptor_vari": [15, 17, 23, 30], "splice_donor_5th_base_vari": [15, 17, 23, 30], "splice_donor_region_vari": 15, "splice_donor_vari": [15, 17, 23, 30], "splice_polypyrimidine_tract_vari": [15, 17], "splice_region_vari": [15, 23, 30], "spuriou": 35, "st1": 2, "stabil": 31, "stage": [15, 28], "stalk": 31, "standalon": 19, "standard": [15, 33], "start": [6, 15, 16, 17, 19, 27, 30, 31, 34, 44], "start_lost": [15, 27], "start_on_strand": 16, "start_retained_vari": 15, "stat": [3, 8, 10, 25, 26, 27, 28, 35], "state": [15, 32], "static": [2, 6, 8, 14, 15, 17, 35], "statist": [1, 3, 4, 8, 9, 10, 12, 21, 23, 31, 33, 35, 37, 41], "statsmodel": 35, "statu": [0, 2, 11, 15], "statur": 37, "stdout": 17, "step": [22, 23, 26, 33, 34, 39], "stimul": 31, "stomatocytosi": 34, "stool": 31, "stop": [23, 31], "stop_gain": [6, 15, 23, 27, 30, 45], "stop_lost": 15, "stop_retained_vari": [15, 23, 30], "storag": 17, "store": [1, 8, 15, 17, 19, 23, 26, 27, 28, 30, 34, 35, 37, 40], "store_annot": 17, "str": [1, 2, 3, 4, 5, 6, 7, 8, 9, 11, 12, 13, 15, 16, 17, 18, 19, 32, 34], "strabismu": 26, "strand": [6, 15, 16, 34], "strategi": [2, 19, 26, 31], "stress": 31, "strict": 17, "string": [8, 15, 17, 19, 31], "stringio": 17, "stromal": 31, "strongli": [6, 15], "structur": [6, 10, 15, 26, 27, 30, 31, 32, 35, 37, 45], "structural_defect": 27, "structural_so_id_to_displai": 15, "structural_typ": [6, 15, 45], "structural_vari": 6, "student": 15, "studi": [11, 21, 28], "stump": 31, "sub": [15, 26, 34], "subclass": [6, 14], "subgroup": 15, "subject": [15, 27, 34, 40], "submodul": 20, "subpackag": 20, "subplot": [23, 27, 28, 30, 34], "subsect": 15, "subsequ": [26, 34], "subunit": 31, "successfulli": [23, 30], "suffix": [17, 34], "suggest": 30, "suitabl": 15, "sum": [27, 37, 44], "sum_": 44, "summar": [5, 15, 17, 19, 32, 34], "summari": [5, 17, 33, 34], "summarize_group": [5, 6], "summarize_hpo_analysi": [0, 19, 23, 26], "summary_df": [23, 26], "suox": 29, "super": 14, "supercoil": 15, "suppli": 15, "support": [6, 14, 15, 16, 21, 29, 45], "supports_shap": 4, "suppos": 14, "suppresor": 15, "surf1": [6, 15], "surf2": 6, "surfac": 31, "surviv": [1, 10, 11, 12, 24, 33, 35, 36, 42], "survival_analysi": 28, "survival_statist": 28, "survivalanalysi": [1, 10, 28], "survivalanalysisresult": [1, 10], "survivalmetr": 12, "survivalstatist": [10, 12], "sv": [6, 15, 17, 25], "sv_delet": 32, "sv_info": 15, "svart": 16, "svlen": [15, 32], "svtype": [15, 32], "sweat": 31, "switch": 22, "symbol": [6, 15, 16, 23, 32, 34, 36], "symptom": [15, 23, 25, 26, 27, 31], "synapt": 31, "syndrom": [15, 23, 30, 38, 45], "synonym": 45, "synonymous_vari": [15, 45], "system": [15, 16, 31, 32, 35, 37], "t": [9, 15, 17, 19, 23, 25, 30, 32], "tabl": [4, 19, 23, 26, 30, 31, 32, 33, 35, 44], "tail": 26, "take": [4, 6, 8, 17, 23, 26, 34, 35, 36, 38, 40], "tall": 37, "tandem": 15, "target": [3, 6, 7, 11, 30, 34, 36, 38, 45], "tast": 31, "taxon": 6, "tbx5": [30, 34, 40], "tbx5_gpsea_with_uniprot_domain": 34, "technic": 21, "tediou": [40, 45], "tedium": 40, "temperatur": 31, "templat": 19, "tempor": [1, 15, 28], "ten": [15, 35], "tend": 15, "term": [1, 2, 3, 7, 8, 11, 15, 17, 19, 21, 23, 25, 26, 27, 28, 30, 32, 33, 37, 40, 41], "term_frequency_threshold": [2, 26, 35], "term_id": [8, 11, 15, 25, 28], "term_id_to_ag": 17, "term_onset_pars": 17, "termid": [2, 3, 6, 7, 8, 11, 15, 40], "termin": [15, 21], "terms_to_test": [2, 35], "test": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 12, 15, 16, 17, 19, 21, 23, 24, 29, 31, 33, 37, 39, 40, 41, 42, 45], "test_nam": 15, "test_result": 15, "test_term_id": 15, "test_uniprot_json": 15, "testabl": 30, "testosteron": [8, 15, 25, 27], "text": 18, "textio": [5, 17, 18], "textiowrapp": [17, 18], "tf_binding_site_vari": 15, "tfbs_ablat": 15, "tfbs_amplif": 15, "th": 3, "than": [1, 2, 3, 6, 15, 23, 26, 27, 31], "thank": 26, "thei": [16, 21, 24, 26, 27, 31, 35, 45], "them": 30, "themselv": 16, "therebi": 2, "therefor": [2, 3, 6, 26, 31, 35, 45], "thi": [1, 2, 3, 6, 7, 8, 11, 14, 15, 16, 17, 21, 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 34, 35, 36, 37, 39, 40, 43, 44, 45], "thick": 31, "thin": 4, "thing": 30, "think": 35, "third": 27, "thorac": 31, "those": [36, 44], "thr161pro": 23, "thr223met": [23, 30], "thr72ly": 23, "three": [6, 15, 29, 35, 44], "three_prime_utr_vari": [15, 17], "threshold": [2, 6, 23, 26, 35], "thrombocyt": 31, "thrombosi": 31, "through": 34, "thu": [1, 3, 15, 30, 35, 37], "thumb": [5, 23, 26, 30, 45], "thymu": 31, "thyroid": 31, "tick": 28, "ticker": 28, "tight_layout": 34, "tild": 45, "time": [3, 11, 15, 17, 22, 23, 26, 28, 30, 34, 35], "timelin": [0, 11, 15], "timeout": 17, "tissu": 31, "tl": 26, "to_displai": 15, "to_negative_strand": 16, "to_opposite_strand": 16, "to_positive_strand": 16, "to_str": 15, "todo": [19, 25, 29, 34, 39, 41, 42], "togeth": [15, 25, 27, 28], "tonsil": 31, "too": 31, "toolkit": [8, 17, 23, 34, 37], "top": [3, 7, 8, 15, 23, 27, 30, 31, 34], "top_phenotype_count": 19, "top_variant_count": 19, "total": [1, 3, 15, 23, 26, 27, 30, 35, 37], "total_patient_count": 15, "total_test": [1, 3, 23, 26], "track": 7, "tracker": [21, 41], "tract": 31, "trans_id": 15, "transcript": [1, 3, 6, 15, 17, 19, 23, 25, 26, 27, 28, 30, 33, 44, 45], "transcript_abl": [15, 27], "transcript_amplif": 15, "transcript_coordin": 19, "transcript_id": [6, 15, 19, 23, 30], "transcriptannot": [0, 15, 17], "transcriptcoordin": [0, 15, 17, 19, 23, 34], "transcriptcoordinateservic": [0, 17], "transcriptinfoawar": [0, 15, 17], "transform": [17, 34], "transit": 16, "translat": 15, "transloc": [6, 15], "transmiss": 31, "transpos": [15, 16], "transpose_coordin": [15, 16], "trascript": 23, "tri": 17, "triphalang": [23, 26, 30], "triphosph": 31, "trp121gly": [23, 30], "true": [2, 6, 7, 10, 14, 15, 16, 17, 19, 23, 26, 28, 30, 33, 34, 35, 40, 45], "truli": 30, "truncat": 23, "try": [13, 14, 16, 17], "ttest_ind": 9, "tteststatist": [8, 9, 25], "tupl": [3, 6, 8, 15, 17, 23, 34, 35, 36, 40], "turn": [17, 34], "tutori": [21, 26, 33], "twice": 35, "two": [1, 3, 4, 6, 8, 12, 15, 16, 26, 27, 29, 30, 34, 35, 36, 37, 38, 39, 41, 44], "tx": [17, 19, 45], "tx_annot": 15, "tx_coordin": [19, 23, 30, 34], "tx_id": [6, 15, 17, 19, 23, 25, 26, 27, 28, 30, 44, 45], "tx_servic": 30, "txc_servic": [23, 34], "type": [1, 2, 3, 6, 7, 8, 14, 15, 16, 17, 19, 21, 33, 34, 35, 45], "typeerror": 14, "typic": [3, 15, 26, 39, 41], "tyr136ter": [23, 30], "tyr291ter": [23, 30], "tyr342thrfster52": [23, 30], "tyr407ter": [23, 34], "u": [8, 9, 23, 24, 26, 30, 33, 34, 37, 44, 45], "ucsc": 16, "ucsc_nam": 16, "ucum": 15, "umbil": 31, "umbilicu": 31, "umod": 28, "unambigu": 38, "unavail": 15, "under": [17, 23, 34, 35], "underli": 45, "undoubtedli": 34, "uniform": 6, "uninterest": 31, "uniprot": [15, 17, 30], "uniprot_json": [15, 34], "uniprotproteinmetadataservic": [0, 15, 17], "uniqu": [2, 3, 15, 23, 30], "unit": [15, 16, 22, 30], "unknown": [6, 15, 23, 30], "unknown_sex": [15, 43], "unless": [7, 23, 34, 35, 40], "unlik": [31, 35], "unnecessari": 31, "unsur": 30, "until": [11, 28], "untransl": [15, 34], "up": [23, 27, 35, 37, 40], "upper": [23, 26, 31], "upstream": 16, "upstream_gene_vari": [15, 17], "urat": 31, "uri": 15, "urin": 31, "urinari": 31, "urobilinogen": 31, "us": [1, 2, 3, 6, 7, 8, 10, 11, 13, 14, 15, 16, 17, 18, 19, 21, 23, 25, 26, 27, 28, 30, 32, 34, 35, 36, 39, 40, 41, 44, 45], "usabl": [1, 3], "usag": [6, 7, 9, 19, 45], "use_al": 35, "usealltermsmtcfilt": [1, 2, 35], "user": [15, 19, 21, 23, 26, 30, 31, 34], "usual": [6, 15, 26, 31, 41], "utf": [17, 18], "util": [0, 6, 26], "utr": [15, 34], "uvea": 31, "v": [21, 25, 27, 28, 35], "v2024": [23, 26, 27, 28, 30, 34, 35, 37, 40], "vagin": 31, "val": 2, "val153serfster21": 23, "val214glyfster12": 23, "val263met": [23, 30], "val267trpfster127": [23, 30], "valid": [17, 19, 23, 30, 35], "validation_polici": 17, "validation_runn": 17, "validationrunn": 17, "valu": [1, 2, 3, 4, 8, 9, 10, 12, 15, 16, 17, 19, 23, 24, 26, 27, 28, 33, 35], "valueerror": [5, 15, 16, 17], "valv": 31, "varcachingfunctionalannot": [0, 17], "vari": [6, 26], "variabl": [4, 7, 8, 13, 15, 26, 30, 39], "variable_nam": [7, 8], "variant": [0, 1, 3, 4, 6, 15, 17, 19, 21, 25, 26, 27, 28, 32, 33, 35, 36, 39, 41], "variant_class": [6, 15, 45], "variant_coordin": [15, 17], "variant_effect": [6, 15, 19, 23, 25, 26, 27, 44, 45], "variant_effect_count_by_tx": 15, "variant_fallback": 17, "variant_info": 15, "variant_kei": [6, 15, 17], "variant_key_of_interest": 45, "variant_loc": 19, "variant_locations_counted_absolut": 19, "variantannotationcach": [0, 17], "variantclass": [0, 6, 15, 45], "variantcoordin": [0, 15, 17, 32], "variantcoordinatefind": [0, 17], "varianteffect": [0, 6, 15, 17, 19, 23, 25, 26, 27, 44, 45], "variantformatt": [0, 19], "variantinfo": [0, 15], "variantinfoawar": [0, 15], "variantpred": [5, 6, 23, 25, 26, 27, 28, 36, 39, 41, 44, 45], "varianttranscriptproteinartist": 19, "varianttranscriptvisu": [0, 19], "variou": 16, "vascular": 31, "vasculatur": 31, "vc": [15, 17], "vcf": 15, "vcv000522858": 45, "ventricular": [23, 26, 30, 31, 32], "vep": 17, "vepfunctionalannot": [0, 17], "veri": [2, 44], "verify_term_id": 2, "version": [4, 23, 26, 27, 37, 40], "versu": 28, "vessel": 31, "via": [7, 14, 17, 19, 34], "view": [0, 21, 23, 26, 30, 34], "viewer": [23, 30], "virtual": 22, "vision": 31, "visual": [19, 23, 27, 30, 31, 34], "vital": [11, 15], "vital_statu": 15, "vitalstatu": [0, 15], "vitamin": 31, "voic": 31, "vol": 15, "volum": [8, 15, 25, 27, 31], "vri": [8, 33, 42], "vvhgvsvariantcoordinatefind": [0, 17], "vvmulticoordinateservic": [0, 17, 23, 30, 34], "w": [15, 17], "wa": [1, 2, 3, 5, 7, 15, 17, 19, 23, 25, 26, 27, 28, 30, 35, 37, 40, 45], "wai": [23, 24, 30, 34], "waist": 31, "wall": 31, "want": [2, 8, 26, 27, 34, 35, 36, 44, 45], "warn": [17, 23, 34], "we": [2, 3, 6, 8, 11, 15, 17, 18, 19, 21, 22, 23, 25, 26, 27, 28, 30, 31, 34, 35, 36, 37, 38, 39, 40, 41, 43, 44, 45], "websit": 34, "week": 15, "weight": 31, "well": [6, 7, 15, 30, 34, 38], "were": [1, 3, 17, 19, 23, 26, 27, 30, 34, 40], "what": [26, 39], "whatsoev": 6, "when": [2, 7, 15, 28, 34, 35, 40], "where": [1, 2, 3, 15, 17, 23, 37, 44], "wherea": 30, "whether": [7, 8, 15, 21, 26, 30], "which": [1, 2, 4, 5, 7, 15, 23, 26, 30, 33, 34, 37, 44, 45], "while": [4, 15, 26, 29, 36, 41, 44], "whisker": 27, "whitnei": [8, 9, 24, 30, 33, 37, 42], "who": [7, 23, 27, 29, 44], "whose": [15, 23, 26, 27, 40], "why": 2, "widespread": 30, "wikipedia": 30, "wilcoxon": 27, "wise": [23, 35], "with_cache_fold": 17, "with_strand": 16, "within": [15, 23, 26, 27, 30], "without": [6, 11, 26, 30], "word": [21, 31], "wordsmith": 25, "work": [2, 13, 17, 26, 34], "workflow": 30, "worth": 2, "would": [2, 8, 15, 21, 26, 27, 29, 30, 35, 37, 45], "wrap": [8, 15, 26, 34, 45], "wrap_scoring_funct": 8, "wrapper": [4, 9, 12, 18], "write": [17, 18, 19], "written": 19, "wwox": 40, "x": [27, 28], "x_1000001_1000027_": 15, "x_1000001_1000027_taaaaaaaaaaaaaaaaaaaaaaaaaa_t": 15, "x_12345_12345_c_g": [6, 15], "xaxi": 28, "xlabel": 28, "xm_": 17, "xu": 25, "y": [15, 27, 28], "ye": [1, 3, 7, 40], "year": [15, 17, 28], "yet": 15, "yield": 35, "ylabel": [27, 28], "ylim": 27, "you": [14, 15, 16, 30, 34, 35], "your": [16, 22, 34], "zero": [2, 6, 16, 32, 36, 37], "zero_vs_on": 6, "zero_vs_one_vs_two": 6, "\u03b1": 15, "\u03c72": 4}, "titles": ["gpsea package", "gpsea.analysis package", "gpsea.analysis.mtc_filter package", "gpsea.analysis.pcats package", "gpsea.analysis.pcats.stats package", "gpsea.analysis.predicate package", "gpsea.analysis.predicate.genotype package", "gpsea.analysis.predicate.phenotype package", "gpsea.analysis.pscore package", "gpsea.analysis.pscore.stats package", "gpsea.analysis.temporal package", "gpsea.analysis.temporal.endpoint package", "gpsea.analysis.temporal.stats package", "gpsea.config module", "gpsea.io module", "gpsea.model package", "gpsea.model.genome package", "gpsea.preprocessing package", "gpsea.util module", "gpsea.view package", "API reference", "GPSEA", "Installation", "Tutorial", "Statistical analyses", "Compare measurement values", "Compare genotype and phenotype groups", "Compare phenotype scores in genotype groups", "Survival analysis", "Genotype-Phenotype Correlations in Autosomal Recessive Diseases", "Cohort exploratory analysis", "General HPO terms", "Glossary", "User guide", "Input data", "Multiple-testing correction", "Group by allele count", "De Vries Score", "Group by diagnosis", "Genotype Predicates", "HPO predicate", "Predicates", "Phenotype Predicates", "Group by sex", "Group by variant category", "Variant Predicates"], "titleterms": {"2x2": 35, "2x3": 35, "The": [23, 37], "abnorm": [35, 37], "across": 30, "all": [23, 35, 40], "allel": [23, 32, 36], "altern": 34, "an": 32, "analys": 24, "analysi": [1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 23, 25, 26, 27, 28, 30, 35], "api": [20, 34], "ar": 35, "associ": 26, "autosom": 29, "background": 35, "biallel": [36, 44], "block": 45, "build": 45, "categori": 44, "chang": 32, "child": 35, "choos": [34, 35], "code": 37, "cohort": [23, 25, 26, 27, 28, 30, 34, 35, 40, 45], "compar": [25, 26, 27, 36], "complex": 45, "condit": 45, "config": 13, "configur": [25, 26, 27, 28, 34], "congenit": 37, "content": [24, 33, 39, 41, 42], "control": 34, "coordin": 34, "correct": 35, "correl": 29, "count": [35, 36], "creat": 34, "creator": 34, "curv": 28, "custom": 26, "data": [28, 34], "de": 37, "default": 26, "delai": 37, "descend": 35, "development": 37, "diagnosi": 38, "diseas": 29, "distribut": [23, 30, 34], "domain": 30, "dump": 34, "dysmorph": 37, "egfr": 36, "endpoint": [11, 28], "enter": 34, "exact": 26, "exampl": [25, 26, 27, 28, 34, 36, 40, 44], "exclud": 35, "explor": [23, 30], "exploratori": 30, "facial": 37, "featur": [34, 37], "feedback": 21, "fet": 26, "fetch": 34, "filter": 35, "final": [25, 27, 28, 37], "fisher": 26, "frameshift": [23, 26], "from": 34, "ga4gh": 34, "galleri": 41, "gener": [31, 35], "genom": 16, "genotyp": [6, 23, 25, 26, 27, 28, 29, 34, 35, 39, 44], "get": 34, "glossari": 32, "gpsea": [0, 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 21, 35], "group": [26, 27, 35, 36, 38, 43, 44], "growth": 37, "guid": 33, "ha": 35, "hmf01": 35, "hmf02": 35, "hmf03": 35, "hmf05": 35, "hmf06": 35, "hmf07": 35, "hmf08": 35, "hmf09": 35, "hpo": [23, 27, 31, 35, 40], "ident": 35, "implement": 35, "individu": 36, "input": 34, "instal": 22, "interact": 30, "interest": 34, "invert": 45, "io": 14, "json": 34, "kaplan": 28, "later": 34, "latest": 22, "length": 32, "level": 35, "literatur": 21, "load": [23, 25, 26, 27, 28, 34, 45], "mann": 27, "manual": 34, "measur": 25, "meier": 28, "missens": 23, "missing_implies_phenotype_exclud": 40, "model": [15, 16], "modul": [13, 14, 18], "monoallel": [36, 44], "more": [35, 41], "mt": 35, "mtc_filter": 2, "multipl": 35, "mutat": 36, "need": 41, "neither": 35, "non": 37, "nor": 35, "observ": 35, "occur": 35, "one": 35, "onset": 37, "packag": [0, 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 15, 16, 17, 19], "pars": 34, "partit": 44, "path": 32, "pcat": [3, 4], "persist": 34, "phenopacket": 34, "phenotyp": [7, 23, 25, 26, 27, 29, 34, 35, 40, 42], "plot": [23, 30, 34], "postnat": 37, "power": 30, "predic": [5, 6, 7, 23, 25, 26, 27, 28, 39, 40, 41, 42, 44, 45], "prenat": 37, "prepar": 23, "preprocess": 17, "procedur": 35, "protein": [23, 30, 34], "provid": 34, "pscore": [8, 9], "qualiti": 34, "rare": 35, "raw": 28, "recess": 29, "refer": [20, 32], "releas": 22, "respect": [23, 30], "rest": [26, 34], "retard": 37, "rule": 32, "run": 22, "score": [25, 27, 37], "scorer": 37, "section": 37, "sequenc": [23, 30], "sex": 43, "shape": 4, "show": 23, "showcas": 34, "skip": 35, "sourc": 34, "specifi": 35, "stabl": 22, "standard": 34, "stat": [4, 9, 12], "statist": [24, 25, 26, 27, 28, 30], "strategi": 35, "submodul": 0, "subpackag": [0, 1, 3, 5, 8, 10, 15], "summar": 23, "summari": [23, 30], "support": 4, "surviv": 28, "tbx5": [23, 26], "tempor": [10, 11, 12], "term": [31, 35], "test": [22, 25, 26, 27, 28, 30, 35], "than": 35, "transcript": 34, "true": 32, "tutori": [23, 29], "type": 30, "u": 27, "underpow": 35, "uniprot": 34, "us": 37, "user": 33, "util": 18, "v": [23, 26], "valid": 34, "valu": 25, "variant": [23, 30, 34, 44, 45], "veri": 35, "view": 19, "vri": 37, "which": 35, "whitnei": 27}})
\ No newline at end of file
diff --git a/latest/tutorial.html b/latest/tutorial.html
index 51a514fad..9eb44c446 100644
--- a/latest/tutorial.html
+++ b/latest/tutorial.html
@@ -1213,39 +1213,20 @@ Prepare genotype and phenotype predicates) with a multiple testing correction.
-Phenotype MTC filter chooses the HPO terms to test according to several heuristics, which
+of a phenotype MT filter (PhenotypeMtcFilter ) with a multiple testing correction.
+Phenotype MT filter chooses the HPO terms to test according to several heuristics, which
reduce the multiple testing burden and focus the analysis
-on the most interesting terms (see HPO MTC filter for more info).
+on the most interesting terms (see HPO MT filter for more info).
Then the multiple testing correction, such as Bonferroni or Benjamini-Hochberg,
is used to control the family-wise error rate or the false discovery rate.
See Multiple-testing correction for more information.
-In this example, we will use a combination of the HPO MTC filter (HpoMtcFilter )
-with Benjamini-Hochberg procedure (mtc_correction='fdr_bh' )
-with a false discovery control level at (mtc_alpha=0.05 ):
->>> from gpsea.analysis.mtc_filter import HpoMtcFilter
->>> mtc_filter = HpoMtcFilter.default_filter(hpo)
->>> mtc_correction = 'fdr_bh'
->>> mtc_alpha = 0.05
-
-
-Choosing the statistical procedure for assessment of association between genotype and phenotype
-groups is the last missing piece of the analysis. We will use Fisher Exact Test:
->>> from gpsea.analysis.pcats.stats import FisherExactTest
->>> count_statistic = FisherExactTest()
-
-
-and we finalize the analysis setup by putting all components together
-into HpoTermAnalysis :
->>> from gpsea.analysis.pcats import HpoTermAnalysis
->>> analysis = HpoTermAnalysis(
-... count_statistic=count_statistic,
-... mtc_filter=mtc_filter,
-... mtc_correction=mtc_correction,
-... mtc_alpha=mtc_alpha,
-... )
+>>> from gpsea.analysis.pcats import configure_hpo_term_analysis
+>>> analysis = configure_hpo_term_analysis(hpo)
+configure_hpo_term_analysis() configures the analysis
+that uses HPO MTC filter (HpoMtcFilter ) for selecting HPO terms of interest,
+Fisher Exact test for computing nominal p values, and Benjamini-Hochberg for multiple testing correction.
Now we can perform the analysis and investigate the results.
>>> result = analysis.compare_genotype_vs_phenotypes(
... cohort=cohort,
diff --git a/latest/user-guide/analyses/phenotype-groups.html b/latest/user-guide/analyses/phenotype-groups.html
index 0bd94d7d0..acf7503df 100644
--- a/latest/user-guide/analyses/phenotype-groups.html
+++ b/latest/user-guide/analyses/phenotype-groups.html
@@ -233,54 +233,76 @@ Phenotype predicatesTrue path rule.
-
-Statistical test
+
+Statistical analysis
We will use Fisher exact test (FET) to test the association
between genotype and phenotype groups, as described previously.
+In the case of this cohort, we can test association between having a frameshift variant and one of 369 HPO terms.
+However, testing multiple hypotheses on the same dataset increases the risk of finding
+a significant association solely by chance.
+GPSEA uses a two-pronged strategy to reduce the number of tests and, therefore, mitigate this risk:
+a phenotype multiple testing (MT) filter and multiple testing correction (MTC).
+Phenotype MT filter selects a (sub)set of HPO terms for testing,
+for instance only the user-selected terms (see SpecifyTermsStrategy )
+or the terms selected by HpoMtcFilter .
+Multiple testing correction then adjusts the nominal p values for the increased risk
+of false positive G/P associations.
+The available MTC procedures are listed in the Multiple-testing correction procedures section.
+We must pick one of these to perform genotype-phenotype analysis.
+
+Default analysis
+We recommend using HPO MT filter (HpoMtcFilter ) as a phenotype MT filter
+and Benjamini-Hochberg for multiple testing correction.
+The default analysis can be configured with configure_hpo_term_analysis() convenience method.
+>>> from gpsea.analysis.pcats import configure_hpo_term_analysis
+>>> analysis = configure_hpo_term_analysis(hpo)
+
+
+
+
+Custom analysis
+If the defaults do not work, we can configure the analysis manually.
+First, we choose a phenotype MT filter (e.g. HpoMtcFilter ):
+>>> from gpsea.analysis.mtc_filter import HpoMtcFilter
+>>> mtc_filter = HpoMtcFilter.default_filter(hpo, term_frequency_threshold=.2)
+
+
+
+then a statistical test (e.g. Fisher Exact test):
>>> from gpsea.analysis.pcats.stats import FisherExactTest
>>> count_statistic = FisherExactTest()
-FET will compute a p value for each genotype phenotype group.
-
-
-Multiple testing correction
-In the case of this cohort, we could test association between having a frameshift variant and one of 369 HPO terms.
-However, testing multiple hypotheses on the same dataset increases the risk of finding a significant association
-by chance.
-GPSEA uses a two-pronged strategy to mitigate this risk - a phenotype MTC filter and multiple testing correction.
-Here we will use a combination of the HPO MTC filter (HpoMtcFilter )
-with Benjamini-Hochberg procedure (mtc_correction='fdr_bh' )
-with a false discovery control level set to 0.05 (mtc_alpha=0.05 ):
->>> from gpsea.analysis.mtc_filter import HpoMtcFilter
->>> mtc_filter = HpoMtcFilter.default_filter(hpo, term_frequency_threshold=0.2)
->>> mtc_correction = 'fdr_bh'
+and we finalize the setup by choosing a MTC procedure
+(e.g. fdr_bh for Benjamini-Hochberg) along with the MTC alpha:
+>>> mtc_correction = 'fdr_bh'
>>> mtc_alpha = 0.05
-
-
-Final analysis
-We finalize the analysis setup by putting all components together
-into HpoTermAnalysis :
+The final HpoTermAnalysis is created as:
>>> from gpsea.analysis.pcats import HpoTermAnalysis
>>> analysis = HpoTermAnalysis(
... count_statistic=count_statistic,
... mtc_filter=mtc_filter,
-... mtc_correction=mtc_correction,
-... mtc_alpha=mtc_alpha,
+... mtc_correction='fdr_bh',
+... mtc_alpha=0.05,
... )
+
Analysis
-We can now execute the analysis:
+We can now test associations between the genotype groups and the HPO terms:
>>> result = analysis.compare_genotype_vs_phenotypes(
... cohort=cohort,
... gt_predicate=gt_predicate,
@@ -292,8 +314,8 @@ Analysis
-Thanks to phenotype MTC filter, we only tested 24 out of 369 terms.
-We can learn more by showing the MTC filter report:
+Thanks to phenotype MT filter, we only tested 24 out of 369 terms.
+We can learn more by showing the MT filter report:
>>> from gpsea.view import MtcStatsViewer
>>> mtc_viewer = MtcStatsViewer()
>>> mtc_report = mtc_viewer.process(result)
diff --git a/latest/user-guide/index.html b/latest/user-guide/index.html
index 5305cfaa3..81d37a82f 100644
--- a/latest/user-guide/index.html
+++ b/latest/user-guide/index.html
@@ -175,7 +175,7 @@
- Background
- Implementation in GPSEA
diff --git a/latest/user-guide/mtc.html b/latest/user-guide/mtc.html
index 61d0d7173..cc4ab4e5e 100644
--- a/latest/user-guide/mtc.html
+++ b/latest/user-guide/mtc.html
@@ -61,7 +61,7 @@
- Background
- Implementation in GPSEA
@@ -126,9 +126,9 @@ Implementation in GPSEA |