Files
usher-exploring/data/report/reproducibility.md
gbanyan b63251a996 fix: resolve JOIN explosion from duplicate gene_ids across evidence tables
- scoring/integration.py: Use CTEs with GROUP BY gene_id to deduplicate
  all evidence tables before LEFT JOIN (gnomAD had 211K rows for 18K
  genes due to per-transcript data; annotation/localization also had dupes)
- literature/transform.py: Deduplicate gene_symbols before PubMed queries
  to avoid querying the same symbol multiple times
- evidence_cmd.py: Fix Polars .alias() error in literature summary display
- Updated report results with full 6-layer scoring (44 HIGH, 7268 MEDIUM)
- Validation PASSED: known Usher genes median percentile 86.9%

Co-Authored-By: Claude Opus 4.6 <noreply@anthropic.com>
2026-02-16 04:48:13 +08:00

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# Pipeline Reproducibility Report
**Run ID:** `0bcdae80-84c2-486b-809a-36040ce4821d`
**Timestamp:** 2026-02-15T20:47:54.482074+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:** 19342
- **HIGH:** 44
- **MEDIUM:** 7268
- **LOW:** 12030