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

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# Pipeline Reproducibility Report
**Run ID:** `e7486ff1-f9be-403b-a68d-115fc845f4a1`
**Timestamp:** 2026-02-15T21:13:12.288563+00:00
**Run ID:** `093b405b-5a20-4f35-b5b8-04f02451789d`
**Timestamp:** 2026-02-15T21:49:14.940206+00:00
**Pipeline Version:** 0.1.0
## Parameters
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## Tier Statistics
- **Total Candidates:** 21103
- **HIGH:** 18
- **MEDIUM:** 9577
- **LOW:** 11508
- **Total Candidates:** 21177
- **HIGH:** 82
- **MEDIUM:** 9626
- **LOW:** 11469