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Resolve incorrect mCNV genotype counts for hom-alt #708

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@kjaisingh kjaisingh commented Aug 9, 2024

This PR addresses Issue #690.

Description

Includes the case where CN >= 4 in the condition for counting hom-alt instances.

Testing

  • This Terra job shows an example run of the pipeline for the 1KGP cohort prior to this change.
  • This Terra job shows an example run of the pipeline for the 1KGP cohort with this change.
  • We can inspect some of the intermediate outputs for the modified task, which are stored at: MainVcfQc/be0d8bbc-966f-47c0-a147-cc4301f7bbeb/call-CollectQcVcfWide/shard-0/CollectQcVcfWide/ded4fc77-8917-446f-adf2-d56af0148c17/call-CollectShardedVcfStats/shard-0/1kgp_2batch_test_cohort.chr1.collect_qc_vcf_wide.collect_stats.shard_0.collectQC_vcfwide_output.tar.gz
  • The stats files show that the hom_gts total increases in certain rows, while the het_gts total decreases in such rows - the sum of hom_gts & het_gts stays the same though.
  • Lines 5 and 6 in the two images below provide an example of this, with the first image corresponding to the statistics files from before the change and the second image corresponding to the same file but after the change:
prev new

Pre-Merge Changes Required

Remove automated Dockstore image sync for MainVcfQc.wdl in development branch.

@kjaisingh kjaisingh self-assigned this Aug 9, 2024
@kjaisingh kjaisingh linked an issue Aug 9, 2024 that may be closed by this pull request
@kjaisingh kjaisingh marked this pull request as ready for review August 10, 2024 01:35
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Incorrect mCNV genotype counts in MainVcfQc
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