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@klaricch klaricch requested a review from a team as a code owner November 21, 2025 19:54
@klaricch klaricch requested a review from Copilot November 21, 2025 19:54
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Pull request overview

This PR adds resources and a script for generating variant QC annotations for gnomAD v5. The key changes include correcting the annotations root path, adding new annotation resources (info HTable and VCF paths), and implementing a script to import and reformat VCF annotations.

  • Corrected the annotations root path from "sample_qc" to "annotations"
  • Added get_info_ht() function and VCF-related constants for variant QC annotations
  • Created a new script to generate variant QC annotations from AoU annotated VCF files

Reviewed changes

Copilot reviewed 2 out of 2 changed files in this pull request and generated 5 comments.

File Description
gnomad_qc/v5/resources/annotations.py Corrected path suffix, added import for get_checkpoint_path, and added variant QC annotation resources including get_info_ht() function and VCF constants
gnomad_qc/v5/annotations/generate_variant_qc_annotations.py New script implementing VCF import, annotation reformatting, and AS_lowqual calculation for variant QC

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@mike-w-wilson mike-w-wilson left a comment

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This looks good overall. I think we should just build in the option to run on batch though in hopeful anticipation...

def main(args):
"""Generate all variant annotations needed for variant QC."""
hl.init(
log="/home/jupyter/workspaces/gnomadproduction/variant_qc_annotations.log",
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If we run this in batch, which is the goal, we should change this log path

finally:
logger.info("Copying hail log to logging bucket...")
hl.copy_log(
get_logging_path("generate_variant_qc_annotations", environment="rwb")
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Lets build in the option for a passed env, e..g batch.

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3 participants