gbanyan
fe8e13c1a1
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>
34 lines
659 B
YAML
34 lines
659 B
YAML
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: 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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- 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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