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>
This commit is contained in:
2026-02-16 04:48:13 +08:00
parent 63e3cccd3c
commit b63251a996
11 changed files with 19434 additions and 18147 deletions

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generated_at: '2026-02-12T18:42:59.932245+00:00'
generated_at: '2026-02-15T20:47:53.707513+00:00'
output_files:
- candidates.tsv
- candidates.parquet
statistics:
total_candidates: 18116
high_count: 0
medium_count: 2151
low_count: 15965
total_candidates: 19342
high_count: 44
medium_count: 7268
low_count: 12030
column_count: 22
column_names:
- gene_id

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{
"run_id": "5f00f9da-e548-4a58-b1b3-028d05c94d32",
"timestamp": "2026-02-12T18:43:00.223842+00:00",
"run_id": "0bcdae80-84c2-486b-809a-36040ce4821d",
"timestamp": "2026-02-15T20:47:54.482074+00:00",
"pipeline_version": "0.1.0",
"parameters": {
"gnomad": 0.2,
@@ -49,9 +49,9 @@
],
"validation_metrics": {},
"tier_statistics": {
"total": 18116,
"high": 0,
"medium": 2151,
"low": 15965
"total": 19342,
"high": 44,
"medium": 7268,
"low": 12030
}
}

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# Pipeline Reproducibility Report
**Run ID:** `5f00f9da-e548-4a58-b1b3-028d05c94d32`
**Timestamp:** 2026-02-12T18:43:00.223842+00:00
**Run ID:** `0bcdae80-84c2-486b-809a-36040ce4821d`
**Timestamp:** 2026-02-15T20:47:54.482074+00:00
**Pipeline Version:** 0.1.0
## Parameters
@@ -39,7 +39,7 @@
## Tier Statistics
- **Total Candidates:** 18116
- **HIGH:** 0
- **MEDIUM:** 2151
- **LOW:** 15965
- **Total Candidates:** 19342
- **HIGH:** 44
- **MEDIUM:** 7268
- **LOW:** 12030