4 Commits

Author	SHA1	Message	Date
gbanyan	bc40704323	docs: finalize top20 analysis with convergent signal observations ... v5 of top20 report adds key biological insights: dynein system dominance (#1 + #2), Na+/K+ pump convergence (3 subunits in top 20), ARL3 as best novel ciliopathy candidate (52% cilia literature), MAPRE3 as most under-studied high-scoring gene (81 papers). Co-Authored-By: Claude Opus 4.6 <noreply@anthropic.com>	2026-02-16 10:21:37 +08:00
gbanyan	a228a56984	fix: deduplicate gene_symbol in scoring to prevent non-canonical ID inflation ... gene_universe contains 1,539 gene_symbols mapping to multiple Ensembl IDs (3,033 excess). Non-canonical IDs lack data in some evidence tables, causing weighted_sum/available_weight to inflate their composite scores. Fix: after scoring SQL, keep one row per gene_symbol with the most evidence_count (tiebreak by composite_score DESC). 22,604 → 19,555 genes. Results: HIGH 82→4, all top 20 now have 5-6 layers with expression data. Validation PASSED (CDH23 98.3rd percentile, median known gene 83.3%). Co-Authored-By: Claude Opus 4.6 <noreply@anthropic.com>	2026-02-16 10:02:32 +08:00
gbanyan	b151faa80a	docs: update top20 analysis with 93.8% gnomAD coverage results ... Reflects improved gnomAD gene_symbol fallback (+3,471 genes). Adds dual ranking (≥3 vs ≥4 layers) to address normalization inflation. New high-priority candidates: ARL3 (52% cilia literature), HDAC6 (known ciliogenesis regulator). HIGH tier: 82 genes. Co-Authored-By: Claude Opus 4.6 <noreply@anthropic.com>	2026-02-16 05:58:36 +08:00
gbanyan	13bba55ac7	docs: add top 20 candidate gene analysis with full 6-layer evidence ... Detailed analysis of top candidates from complete pipeline run with gnomAD constraint, tissue expression, annotation, localization, animal model, and literature evidence. Includes per-gene evidence breakdown, biological interpretation, and prioritized recommendations for follow-up. Co-Authored-By: Claude Opus 4.6 <noreply@anthropic.com>	2026-02-16 05:34:13 +08:00