{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001784769,0.0001458444,0.0002501241,0.0002367614,0.00007293547,0.00001813798,0.000211323,0.0001014475,0.00003523186],"category_scores_gemma":[0.00003275225,0.0001337154,0.00005389315,0.0001593152,0.0001130306,0.000009621135,0.00002674662,0.0001534692,1.5524e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001085016,"about_ca_system_score_gemma":0.0007842456,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.01278749,"about_ca_topic_score_gemma":0.06439232,"domain_scores_codex":[0.9988292,0.00007160011,0.0005380405,0.0001764945,0.0001887279,0.0001958869],"domain_scores_gemma":[0.9986173,0.00002256259,0.0005608516,0.0002324734,0.0004576392,0.0001091681],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005825298,0.00007701293,0.5603984,0.00004577465,0.0002766446,0.00001594302,0.00103037,0.03844041,0.3776068,0.00004255625,0.000249964,0.02175785],"study_design_scores_gemma":[0.000710707,0.0005056682,0.9620358,0.0001050549,0.0001245403,0.00009934257,0.0002508046,0.0002372695,0.03533332,0.0002245004,0.0002081953,0.0001648452],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958035,0.003221571,0.0003836415,0.0001442434,0.0001143807,0.00009958296,0.0001574619,0.000001194052,0.00007443224],"genre_scores_gemma":[0.9886858,0.001867256,0.009158699,0.00005180891,0.0001877086,0.000002721763,0.000007225187,0.00001588521,0.00002287962],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4016374,"threshold_uncertainty_score":0.9937865,"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."}}