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:
@@ -1,7 +1,7 @@
|
||||
# Pipeline Reproducibility Report
|
||||
|
||||
**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
|
||||
@@ -39,7 +39,7 @@
|
||||
|
||||
## Tier Statistics
|
||||
|
||||
- **Total Candidates:** 19342
|
||||
- **HIGH:** 44
|
||||
- **MEDIUM:** 7268
|
||||
- **LOW:** 12030
|
||||
- **Total Candidates:** 21103
|
||||
- **HIGH:** 18
|
||||
- **MEDIUM:** 9577
|
||||
- **LOW:** 11508
|
||||
|
||||
Reference in New Issue
Block a user