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245 repositories
- Coordinating the mondo-ingest with external sources
medgen
Public- Data ingest pipeline for OMIM.
- Mondo Disease Ontology
- A package to convert cancer data to GA4GH phenopacket
- A Python library for discovery of genotype-phenotype associations
phenio
PublicAn integrated ontology for Phenomicsllm-runner
Publicmonarch-app
PublicMonarch Initiative website and APIemods
Publickghub-downloader
Publicmonarch-ingest
PublicData ingest application for Monarch Initiative knowledge graph using Kozarppr_stats
Publicontogpt
PublicLLM-based ontological extraction tools, including SPIREShpotools
Publicphenopacket2prompt
PublicGA4GH Phenopacket to LLM promptphenotype2phenopacket
PublicPhenotype2Phenopacket is a command-line tool that converts a phenotype annotation into GA4GH Phenopackets, facilitating standardised phenotypic data representation.pheval-paper
Publicpheval
PublicA framework for empirical evaluation of phenotype matching and prioritisationphenopacket-store
PublicCollections of GA4GH phenopackets that represent individuals with Mendelian diseases.pyphetools
PublicPython Phenopacket Toolsmondo-curation-analysis
Publicmonarchr
PublicR package for easy access, manipulation, and analysis of the Monarch Initiative or other KGX-formatted knowledge graphs.