fix: restore gnomAD and expression evidence layers for complete 6-layer scoring
Three bugs prevented gnomAD and expression data from contributing to scores: 1. gnomAD COLUMN_VARIANTS mapped "gene" (HGNC symbol) to gene_id instead of gene_symbol, causing JOIN miss with gene_universe (Ensembl IDs) 2. Expression HPA data was fetched but never merged (lf_hpa unused) 3. GTEx versioned Ensembl IDs (ENSG*.5) didn't match gene_universe Results: gnomAD 78.5% coverage, expression 87.4%, 19946 genes with ≥4 layers. HIGH tier refined from 44 → 18 candidates. Validation PASSED (CDH23 96.5th pctl). Co-Authored-By: Claude Opus 4.6 <noreply@anthropic.com>
This commit is contained in:
@@ -1,6 +1,6 @@
|
||||
{
|
||||
"run_id": "0bcdae80-84c2-486b-809a-36040ce4821d",
|
||||
"timestamp": "2026-02-15T20:47:54.482074+00:00",
|
||||
"run_id": "e7486ff1-f9be-403b-a68d-115fc845f4a1",
|
||||
"timestamp": "2026-02-15T21:13:12.288563+00:00",
|
||||
"pipeline_version": "0.1.0",
|
||||
"parameters": {
|
||||
"gnomad": 0.2,
|
||||
@@ -49,9 +49,9 @@
|
||||
],
|
||||
"validation_metrics": {},
|
||||
"tier_statistics": {
|
||||
"total": 19342,
|
||||
"high": 44,
|
||||
"medium": 7268,
|
||||
"low": 12030
|
||||
"total": 21103,
|
||||
"high": 18,
|
||||
"medium": 9577,
|
||||
"low": 11508
|
||||
}
|
||||
}
|
||||
Reference in New Issue
Block a user