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Add VEP + LOFTEE (+ GERP + HGNC) to VAT [VS-1520] [VS-1765] [VS-1767] #9299
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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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scripts/variantstore/variant-annotations-table/GvsCreateVATfromVDS.wdl
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Co-authored-by: Copilot <[email protected]>
gbggrant
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Looks good to me.
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Github actions tests reported job failures from actions build 19713361580
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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.