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:
2026-02-16 05:25:37 +08:00
parent b63251a996
commit fe8e13c1a1
13 changed files with 18927 additions and 17136 deletions

View File

@@ -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