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>
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generated_at: '2026-02-15T20:47:53.707513+00:00'
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generated_at: '2026-02-15T21:13:11.954116+00:00'
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output_files:
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- candidates.tsv
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- candidates.parquet
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statistics:
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total_candidates: 19342
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high_count: 44
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medium_count: 7268
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low_count: 12030
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total_candidates: 21103
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high_count: 18
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medium_count: 9577
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low_count: 11508
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column_count: 22
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column_names:
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- gene_id
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{
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"run_id": "0bcdae80-84c2-486b-809a-36040ce4821d",
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"timestamp": "2026-02-15T20:47:54.482074+00:00",
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"run_id": "e7486ff1-f9be-403b-a68d-115fc845f4a1",
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"timestamp": "2026-02-15T21:13:12.288563+00:00",
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"pipeline_version": "0.1.0",
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"parameters": {
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"gnomad": 0.2,
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@@ -49,9 +49,9 @@
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],
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"validation_metrics": {},
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"tier_statistics": {
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"total": 19342,
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"high": 44,
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"medium": 7268,
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"low": 12030
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"total": 21103,
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"high": 18,
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"medium": 9577,
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"low": 11508
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}
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}
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# Pipeline Reproducibility Report
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**Run ID:** `0bcdae80-84c2-486b-809a-36040ce4821d`
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**Timestamp:** 2026-02-15T20:47:54.482074+00:00
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**Run ID:** `e7486ff1-f9be-403b-a68d-115fc845f4a1`
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**Timestamp:** 2026-02-15T21:13:12.288563+00:00
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**Pipeline Version:** 0.1.0
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## Parameters
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## Tier Statistics
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- **Total Candidates:** 19342
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- **HIGH:** 44
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- **MEDIUM:** 7268
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- **LOW:** 12030
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- **Total Candidates:** 21103
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- **HIGH:** 18
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- **MEDIUM:** 9577
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- **LOW:** 11508
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