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@kjaisingh kjaisingh commented Aug 2, 2025

Description

This PR is intended to enable passing in a custom breakpoint cutoff for dispersed duplication detection for complex events in GATK-SV. It also sets this cutoff as 5000 by default, as opposed to 1000000 in the existing implementation.

Testing

  • The following job represents a run of the original WDL.
  • The following job represents a run of the modified WDL with the original value of 1000000 passed - the number of variants in the output VCF is equal to the original case.
  • The following job represents a run of the modified WDL with the default value of 5000 passed - the number of variants in the output VCF is still equal to the original case, but 3 out of the 5 variants in the Chromosome 1 VCF with a CPX_TYPE of dupINV are revised to dDUP.
  • Validated all WDLs with womtool.

Pre-Merge Changes Required

Remove automated sync of the GenotypeComplexVariants WDL to Dockstore.

@kjaisingh kjaisingh changed the title Kj cpx cutoff modification Enable passing custom cutoffs for dispersed deletion detection Aug 2, 2025
@kjaisingh kjaisingh requested a review from mwalker174 August 3, 2025 20:27
@kjaisingh kjaisingh self-assigned this Aug 3, 2025
@kjaisingh kjaisingh added the enhancement New feature or request label Aug 3, 2025
@kjaisingh kjaisingh marked this pull request as ready for review August 3, 2025 20:30
@kjaisingh kjaisingh changed the title Enable passing custom cutoffs for dispersed deletion detection Enable passing custom threshold for detection of dispersed deletions Aug 3, 2025
@kjaisingh kjaisingh changed the title Enable passing custom threshold for detection of dispersed deletions Enable passing custom threshold to govern dispersed deletion window Aug 4, 2025
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@mwalker174 One thing to note here - default for this is currently 1000000 to match what's currently in GATK-SV, let me know if you think I should reduce this though.

@kjaisingh kjaisingh changed the title Enable passing custom threshold to govern dispersed deletion window Enable passing a threshold to govern the window for detection of dispersed deletions Aug 14, 2025
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Thanks this looks ok, and let's set the threshold to 5000 as discussed offline

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Retested with updated default, merging now.

@kjaisingh kjaisingh merged commit 631368e into main Sep 3, 2025
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@kjaisingh kjaisingh deleted the kj_cpx_cutoff_modification branch September 3, 2025 01:55
@@ -132,6 +132,7 @@ workflows:
filters:
branches:
- main
- kj_cpx_cutoff_modification
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@kjaisingh please undo this in another PR; no need to have a PR only for this, it can go as part of an existing PR.

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Hi Vahid, thanks for pointing this out - yes, I made #866 in light of this, but will include it in another PR if I merge one soon. Apologies for the inconvenience.

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Thanks! I would remove it as part of one of your relevant PRs.

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3 participants