gnomAD v4.1 gene_id column is mixed: ~101K Ensembl IDs + ~111K NCBI numeric. Now falls back to gene_symbol → gene_universe lookup for non-ENSG entries. Coverage: 78.5% → 90.3% (17,875 → 20,555 genes with gnomAD scores). Sufficient evidence (≥4 layers): 19,946 → 20,683 genes. Validation median percentile: 79.9% → 81.1%. Co-Authored-By: Claude Opus 4.6 <noreply@anthropic.com>
57 lines
1.2 KiB
JSON
57 lines
1.2 KiB
JSON
{
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"run_id": "093b405b-5a20-4f35-b5b8-04f02451789d",
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"timestamp": "2026-02-15T21:49:14.940206+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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"expression": 0.2,
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"annotation": 0.15,
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"localization": 0.15,
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"animal_model": 0.15,
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"literature": 0.15
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},
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"data_versions": {
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"ensembl_release": 113,
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"gnomad_version": "v4.1",
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"gtex_version": "v8",
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"hpa_version": "23.0"
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},
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"software_environment": {
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"python": "3.14.3",
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"polars": "1.38.1",
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"duckdb": "1.4.4"
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},
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"filtering_steps": [
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"step_name": "load_scored_genes",
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"criteria": ""
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},
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{
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"step_name": "apply_tier_classification",
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"step_name": "write_candidate_output",
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"step_name": "generate_visualizations",
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],
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"validation_metrics": {},
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"tier_statistics": {
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"total": 21177,
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"high": 82,
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"medium": 9626,
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"low": 11469
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}
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} |