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Add check for duplicate records to MainVcfQc #705
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mwalker174
requested changes
Sep 25, 2024
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This looks great, I have just a few minor suggestions.
Co-authored-by: Mark Walker <[email protected]>
…stitute/gatk-sv into kj/701_vcf_qc_duplicates
mwalker174
approved these changes
Oct 28, 2024
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This PR addresses Issue #701.
Description
identify_duplicates.py
that takes a VCF files as input, and produces separate TSVs for 1. duplicate counts aggregated by category and 2. duplicate records tagged to a category.merge_duplicates.py
that aggregates multiple count and record TSVs produced byidentify_duplicates.py
into aggregated TSVs.agg_duplicate_records.tsv
andagg_duplicate_counts.tsv
that represent the aggregated TSVs.MainVcfQc.wdl
:identify_duplicates.py
.merge_duplicates.py
.Testing
1kgp_2batch_test_cohort.agg_duplicate_counts.tsv
and1kgp_2batch_test_cohort.agg_duplicate_records.tsv
in the linked GCS folder contain example outputs from the 1KGP cohort.ex1.vcf
andex2.vcf
are sample VCF files:python src/sv-pipeline/scripts/identify_duplicates.py --vcf ex1.vcf --fout ex1
python src/sv-pipeline/scripts/identify_duplicates.py --vcf ex2.vcf --fout ex2
Pre-Merge Changes Required