Evidence Graph & Traceability Engineمحرك رسم الأدلة والتتبع

Link variant, gene, disease, phenotype, evidence, sources, ACMG criteria, conflicts, missing evidence, and draft conclusions into one auditable graph.اربط المتغير والجين والمرض والأنماط الظاهرية والأدلة والمصادر ومعايير ACMG والتعارضات والأدلة الناقصة والاستنتاجات المسودة في رسم واحد قابل للتدقيق.

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Build evidence graphابنِ رسم الأدلة

{"case_id":"case-p196-demo","variants":[{"variant":{"gene":"BRCA1","hgvs_p":"p.Glu23ValfsTer17"},"evidence_cards":[{"source":"ClinVar","summary":"Pathogenic assertion","confidence":0.8},{"source":"AlphaGenome","summary":"regulatory_functional_prediction deleterious","confidence":0.7}],"gene_disease_validity":{"best_match":{"disease":"Hereditary breast and ovarian cancer syndrome","validity":"definitive","gene_disease_confidence":0.9}},"phenotype":{"status":"strong_match","score":0.8},"conflict_detection":{"conflicts":[{"type":"classification_disagreement","severity":"high","message":"conflicting assertion"}],"do_not_finalize_without_review":true},"deep_acmg_reasoning":{"criteria":[{"criterion":"PVS1","status":"candidate_review","confidence":0.55,"reason":"truncating signal","sources":["variant.hgvs_p"]}],"draft_recommendation":"do_not_classify_until_blocks_resolved","over_classification_blocks":["high_or_critical_conflict"]},"missing_evidence":[{"item":"segregation","severity":"medium"}]}]}

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