{"id":"W1972240813","doi":"10.1038/ng.3284","title":"Germline RECQL mutations are associated with breast cancer susceptibility","year":2015,"lang":"en","type":"article","venue":"Nature Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":189,"is_retracted":false,"has_abstract":false,"ca_institutions":"Women's College Hospital; University of Toronto; McGill University Health Centre; Centre hospitalier universitaire de Québec; McGill University; Jewish General Hospital; McGill University and Génome Québec Innovation Centre","funders":"Canadian Institutes of Health Research","keywords":"Breast cancer; Biology; Gene; Exome sequencing; Genetics; Cancer; Germline; Exome; Germline mutation; Population; Mutation; DNA sequencing; Oncology; Internal medicine; Medicine","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001973148,0.0001920831,0.0001515216,0.00004219991,0.00008189024,0.00002932244,0.0002196506,0.0004815445,0.00004170332],"category_scores_gemma":[0.0001839045,0.0001701515,0.00005372673,0.000288633,0.0001383486,0.000003864876,0.00007356309,0.0003225615,0.000006794318],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002111915,"about_ca_system_score_gemma":0.0006572096,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001515823,"about_ca_topic_score_gemma":0.00182607,"domain_scores_codex":[0.9987454,0.00007229356,0.0001880684,0.000442954,0.0002883968,0.0002628736],"domain_scores_gemma":[0.9982539,0.00001346098,0.0001549633,0.0004867674,0.0009372202,0.0001536287],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004652801,0.0005008802,0.8332871,0.00003988681,0.0006861179,0.00002166223,0.0005205701,0.02034428,0.04078526,0.00002591067,0.09434506,0.008977951],"study_design_scores_gemma":[0.003645005,0.0005279677,0.8530508,0.00009431382,0.0002956881,0.0001087397,0.0007038222,0.0007389526,0.08009875,0.0005073212,0.05912182,0.001106812],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9924576,0.004063753,0.0003627726,0.001191907,0.0004881057,0.0002471044,0.0005980928,0.00003495697,0.0005556772],"genre_scores_gemma":[0.995198,0.0001201717,0.002087238,0.0006936219,0.0005276992,0.00005316637,0.0004613884,0.00004386392,0.0008148327],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0393135,"threshold_uncertainty_score":0.6938578,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0141824451090253,"score_gpt":0.2942865319465853,"score_spread":0.28010408683756,"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."}}