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>
34 lines
659 B
YAML
34 lines
659 B
YAML
generated_at: '2026-02-15T21:49:14.608460+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: 21177
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high_count: 82
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medium_count: 9626
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low_count: 11469
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column_count: 22
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column_names:
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- gene_id
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- gene_symbol
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- gnomad_score
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- expression_score
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- annotation_score
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- localization_score
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- animal_model_score
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- literature_score
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- evidence_count
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- available_weight
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- weighted_sum
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- composite_score
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- quality_flag
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- gnomad_contribution
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- expression_contribution
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- annotation_contribution
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- localization_contribution
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- animal_model_contribution
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- literature_contribution
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- confidence_tier
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- supporting_layers
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- evidence_gaps
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