{"id":"W2947227562","doi":"10.1002/humu.23818","title":"Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification","year":2019,"lang":"en","type":"article","venue":"Human Mutation","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":152,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University","funders":"National Cancer Institute; International Graduate School in Molecular Medicine Ulm; Cancer Council Tasmania; Cancer Council NSW; Cancer Council South Australia; Manchester Biomedical Research Centre; National Institutes of Health; Seventh Framework Programme; Centro de Investigación Biomédica en Red de Cáncer; Cancer Council Victoria; Deutsche Krebshilfe; Associazione Italiana per la Ricerca sul Cancro; Financiadora de Estudos e Projetos; Max-Planck-Gesellschaft; Conselho Nacional de Desenvolvimento Científico e Tecnológico; Universität Ulm; Universiteit Leiden; Unicancer; Newcastle University; Royal Society Te Apārangi; National Breast Cancer Foundation; Wellcome Trust; Cancer Research UK; Cancer Australia; Huntsman Cancer Institute; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; European Commission; Breast Cancer Research Foundation; Canadian Institutes of Health Research; Fundación Mutua Madrileña; Generalitat de Catalunya; Medical Research Council; Fondazione Pisa; National Institute for Health and Care Research; Instituto de Salud Carlos III; Ohio State University; Hospital de Câncer de Barretos; QIMR Berghofer Medical Research Institute; National Health and Medical Research Council; AstraZeneca","keywords":"Biology; Pathogenicity; Genetics; Missense mutation; Computational biology; RNA splicing; Gene; Population; Bioinformatics; Mutation; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0201542,0.001083291,0.001542087,0.01019768,0.0007243576,0.004650941,0.00225712,0.001201659,0.008714815],"category_scores_gemma":[0.07453229,0.001033777,0.002183611,0.005761353,0.0006868892,0.002418784,0.004083479,0.001791212,0.003640275],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001208055,"about_ca_system_score_gemma":0.002604688,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00279218,"about_ca_topic_score_gemma":0.004709251,"domain_scores_codex":[0.9939414,0.002079843,0.0008170134,0.001064056,0.001957586,0.0001401016],"domain_scores_gemma":[0.9279544,0.04757633,0.007124038,0.01080946,0.005081789,0.001453908],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.0008383782,0.0002000554,0.1783134,0.002976772,0.002269111,0.001467403,0.001143812,0.04499887,0.01794387,0.01890548,0.0490887,0.6818542],"study_design_scores_gemma":[0.0003164363,0.0003125205,0.0866705,0.001169318,0.000956313,0.004391409,0.0004940656,0.570689,0.01482547,0.2182063,0.1015142,0.0004544241],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"empirical","genre_scores_codex":[0.03151516,0.004336874,0.9056917,0.001995708,0.0001072858,0.0003170551,0.03238964,0.02097332,0.002673231],"genre_scores_gemma":[0.235775,0.001857911,0.7198991,0.0003566708,0.000256736,0.000629303,0.03681045,0.002804066,0.001610631],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.0201542,"threshold_uncertainty_score":0.1065868,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0321462148493669,"score_gpt":0.3566227953207491,"score_spread":0.3244765804713822,"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."}}