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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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

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{
"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": {
"gnomad": 0.2,
@@ -49,9 +49,9 @@
],
"validation_metrics": {},
"tier_statistics": {
"total": 21103,
"high": 18,
"medium": 9577,
"low": 11508
"total": 21177,
"high": 82,
"medium": 9626,
"low": 11469
}
}

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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
@@ -39,7 +39,7 @@
## Tier Statistics
- **Total Candidates:** 21103
- **HIGH:** 18
- **MEDIUM:** 9577
- **LOW:** 11508
- **Total Candidates:** 21177
- **HIGH:** 82
- **MEDIUM:** 9626
- **LOW:** 11469