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>
This commit is contained in:
2026-02-16 05:49:27 +08:00
parent 13bba55ac7
commit e2a3dc2bc8
9 changed files with 6546 additions and 6450 deletions

View File

@@ -1,12 +1,12 @@
generated_at: '2026-02-15T21:13:11.954116+00:00'
generated_at: '2026-02-15T21:49:14.608460+00:00'
output_files:
- candidates.tsv
- candidates.parquet
statistics:
total_candidates: 21103
high_count: 18
medium_count: 9577
low_count: 11508
total_candidates: 21177
high_count: 82
medium_count: 9626
low_count: 11469
column_count: 22
column_names:
- gene_id