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@mcovarr mcovarr commented Nov 24, 2025

Almost successful run, failing only on the (unsurprising) difference in table size.

Dockerfile PR here, though ultimately we would probably want to keep this in the Variants repo.

@mcovarr mcovarr requested a review from Copilot November 25, 2025 17:15
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Pull request overview

This PR integrates VEP (Variant Effect Predictor) and LOFTEE (Loss-Of-Function Transcript Effect Estimator) annotations into the Variant Annotations Table (VAT), adding support for GERP conservation scores and HGNC gene nomenclature data. The implementation creates a new Docker image for VEP+LOFTEE and establishes a pipeline to generate, load, and process these annotations through BigQuery.

Key changes:

  • Adds VEP+LOFTEE annotation generation task with GERP and HGNC support
  • Implements BigQuery pipeline for loading and transforming raw VEP+LOFTEE output
  • Updates VAT schema with new fields: hgnc_symbol, hgnc_id, LoF annotations, and GERP scores

Reviewed changes

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

Show a summary per file
File Description
scripts/variantstore/wdl/GvsUtils.wdl Adds vep_loftee_docker image reference and updates variants_docker version
scripts/variantstore/variant-annotations-table/GvsCreateVATfromVDS.wdl Implements VEP+LOFTEE annotation workflow with three new tasks and integrates results into VAT
scripts/variantstore/scripts/variant_annotation_table/schema/vat_schema.json Adds schema definitions for HGNC and LOFTEE annotation fields
scripts/variantstore/scripts/variant_annotation_table/schema/variant_transcript_schema.json Adds schema definitions for HGNC and LOFTEE annotation fields
.dockstore.yml Updates branch tracking configuration

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Looks good to me.

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Github actions tests reported job failures from actions build 19713361580
Failures in the following jobs:

Test Type JDK Job ID Logs
conda 17.0.6+10 19713361580.3 logs

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4 participants