gbanyan e2a3dc2bc8 fix: rescue gnomAD genes with non-Ensembl IDs via gene_symbol fallback ...

gnomAD v4.1 gene_id column is mixed: ~101K Ensembl IDs + ~111K NCBI numeric.
Now falls back to gene_symbol → gene_universe lookup for non-ENSG entries.

Coverage: 78.5% → 90.3% (17,875 → 20,555 genes with gnomAD scores).
Sufficient evidence (≥4 layers): 19,946 → 20,683 genes.
Validation median percentile: 79.9% → 81.1%.

Co-Authored-By: Claude Opus 4.6 <noreply@anthropic.com>

2026-02-16 05:49:27 +08:00

..

usher_pipeline

fix: rescue gnomAD genes with non-Ensembl IDs via gene_symbol fallback

2026-02-16 05:49:27 +08:00