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:
@@ -1,12 +1,12 @@
|
||||
generated_at: '2026-02-15T20:47:53.707513+00:00'
|
||||
generated_at: '2026-02-15T21:13:11.954116+00:00'
|
||||
output_files:
|
||||
- candidates.tsv
|
||||
- candidates.parquet
|
||||
statistics:
|
||||
total_candidates: 19342
|
||||
high_count: 44
|
||||
medium_count: 7268
|
||||
low_count: 12030
|
||||
total_candidates: 21103
|
||||
high_count: 18
|
||||
medium_count: 9577
|
||||
low_count: 11508
|
||||
column_count: 22
|
||||
column_names:
|
||||
- gene_id
|
||||
|
||||
Reference in New Issue
Block a user