{"id":"W2016500332","doi":"10.1111/cge.12602","title":"Prevalence of founder mutations in the <scp>BRCA1</scp> and <scp>BRCA2</scp> genes among unaffected women from the Bahamas","year":2015,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"Public Health Ontario; University of Toronto; Women's College Hospital","funders":"","keywords":"Family history; Ovarian cancer; Breast cancer; Founder effect; BRCA mutation; Genetic testing; Genetics; Genetic counseling; Population; Medicine; Cancer; Mutation; Oncology; Biology; Gene; Gynecology; Internal medicine; Haplotype; Genotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004938441,0.0001869326,0.0002402705,0.001143439,0.0004612216,0.0005993239,0.0003489745,0.000314903,0.001151849],"category_scores_gemma":[0.002038405,0.0002129487,0.0001395568,0.00064938,0.0005295565,0.0002682692,0.0003077237,0.0001902551,0.0001115729],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007518983,"about_ca_system_score_gemma":0.0002970174,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0711098,"about_ca_topic_score_gemma":0.05848923,"domain_scores_codex":[0.9996015,0.0001043332,0.00005011158,0.00007404372,0.0001037223,0.00006628198],"domain_scores_gemma":[0.9994996,0.0001069518,0.0001845265,0.00004701159,0.0000804224,0.00008142885],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00003189583,0.00001572279,0.9964765,0.000008844449,0.00002048588,0.0002367689,0.0008114351,0.00002190436,0.0006194099,0.00004016778,0.0000829576,0.001634046],"study_design_scores_gemma":[0.000004035484,0.00005339022,0.9979652,0.000008484983,0.00002209268,0.0006334978,0.0008528496,0.00009026427,0.0001382524,0.00002794623,0.0001997782,0.000004224197],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999415,0.0002008883,0.00001628372,0.0000343065,0.000001688604,0.000001873569,0.00009546165,0.000001536122,0.0002329554],"genre_scores_gemma":[0.999683,0.0001244816,0.0000201525,0.00002030576,0.000003034011,0.000001732667,0.00007074191,4.549877e-7,0.00007614061],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0711098,"threshold_uncertainty_score":0.1413918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04670803284563987,"score_gpt":0.3337236989360254,"score_spread":0.2870156660903856,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}