Files
usher-exploring/data/report/candidates.provenance.yaml
gbanyan e2a3dc2bc8 fix: rescue gnomAD genes with non-Ensembl IDs via gene_symbol fallback
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>
2026-02-16 05:49:27 +08:00

34 lines
659 B
YAML

generated_at: '2026-02-15T21:49:14.608460+00:00'
output_files:
- candidates.tsv
- candidates.parquet
statistics:
total_candidates: 21177
high_count: 82
medium_count: 9626
low_count: 11469
column_count: 22
column_names:
- gene_id
- gene_symbol
- gnomad_score
- expression_score
- annotation_score
- localization_score
- animal_model_score
- literature_score
- evidence_count
- available_weight
- weighted_sum
- composite_score
- quality_flag
- gnomad_contribution
- expression_contribution
- annotation_contribution
- localization_contribution
- animal_model_contribution
- literature_contribution
- confidence_tier
- supporting_layers
- evidence_gaps