{"id":"W2094391797","doi":"10.1038/jhg.2009.6","title":"Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian Families with high risk of breast cancer","year":2009,"lang":"en","type":"article","venue":"Journal of Human Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":46,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université Laval; Centre hospitalier universitaire de Québec","funders":"Canadian Institutes of Health Research; Canadian Breast Cancer Research Alliance","keywords":"Breast cancer; Genetics; Biology; Gene; Penetrance; Haplotype; Cancer; Single-nucleotide polymorphism; Allele; Germline mutation; Mutation; Genotype; Phenotype","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.0002997018,0.001211627,0.0005854593,0.002932159,0.00320864,0.0005668646,0.001037251,0.001033276,0.005678927],"category_scores_gemma":[0.001425523,0.0004741041,0.0008181296,0.002564403,0.001264117,0.0001795947,0.0004328227,0.0008003269,0.0002654856],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006273418,"about_ca_system_score_gemma":0.004616395,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8694882,"about_ca_topic_score_gemma":0.8161805,"domain_scores_codex":[0.9993289,0.00007316614,0.00004403376,0.0001663309,0.0001842619,0.0002032606],"domain_scores_gemma":[0.9991766,0.0002726574,0.0001331162,0.00002822002,0.0001863239,0.0002031357],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.003145995,0.0004216462,0.7684064,0.0002957003,0.0006478474,0.1135851,0.0125282,0.002343741,0.06179529,0.002957623,0.00349615,0.03037632],"study_design_scores_gemma":[0.0001005056,0.0002002283,0.9419543,0.00009510003,0.0004093434,0.044494,0.002418226,0.001188039,0.003302179,0.0002508201,0.005478417,0.0001087992],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9945816,0.000972462,0.0003317365,0.0003033888,0.00003105306,0.00002994345,0.0008612422,0.00002185331,0.002866641],"genre_scores_gemma":[0.9973187,0.0003464092,0.0003449605,0.00007853271,0.00001378308,0.00001006505,0.0001771599,0.0000116931,0.001698715],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1305118,"threshold_uncertainty_score":0.2625607,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009402002834260471,"score_gpt":0.2658992303846681,"score_spread":0.2564972275504076,"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."}}