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usher-exploring/data/report/reproducibility.md
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

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# Pipeline Reproducibility Report
**Run ID:** `093b405b-5a20-4f35-b5b8-04f02451789d`
**Timestamp:** 2026-02-15T21:49:14.940206+00:00
**Pipeline Version:** 0.1.0
## Parameters
**Scoring Weights:**
- gnomAD: 0.20
- Expression: 0.20
- Annotation: 0.15
- Localization: 0.15
- Animal Model: 0.15
- Literature: 0.15
## Data Versions
- **ensembl_release:** 113
- **gnomad_version:** v4.1
- **gtex_version:** v8
- **hpa_version:** 23.0
## Software Environment
- **python:** 3.14.3
- **polars:** 1.38.1
- **duckdb:** 1.4.4
## Filtering Steps
| Step | Input Count | Output Count | Criteria |
|------|-------------|--------------|----------|
| load_scored_genes | 0 | 0 | |
| apply_tier_classification | 0 | 0 | |
| write_candidate_output | 0 | 0 | |
| generate_visualizations | 0 | 0 | |
## Tier Statistics
- **Total Candidates:** 21177
- **HIGH:** 82
- **MEDIUM:** 9626
- **LOW:** 11469