{"id":"W3200490259","doi":"10.1101/2021.09.02.21262369","title":"Breast cancer risks associated with missense variants in breast cancer susceptibility genes","year":2021,"lang":"en","type":"preprint","venue":"medRxiv","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"European Commission; Cancer Research UK; Wellcome Trust","keywords":"CHEK2; Missense mutation; Breast cancer; PALB2; In silico; Genetics; Biology; Gene; Cancer; Mutation; Germline mutation","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":[0.004085335,0.0004083068,0.0005104758,0.001083732,0.0003362462,0.0006804645,0.000372877,0.000547645,0.001714164],"category_scores_gemma":[0.010392,0.0002669295,0.001066391,0.0006333789,0.0004480234,0.000263001,0.0005258718,0.0006786343,0.0001444086],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002444858,"about_ca_system_score_gemma":0.0002233921,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00134312,"about_ca_topic_score_gemma":0.001094918,"domain_scores_codex":[0.9971932,0.001220673,0.0002264933,0.0008219384,0.0003708033,0.0001669823],"domain_scores_gemma":[0.9847842,0.01199324,0.001483997,0.001002196,0.0004400047,0.0002962784],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008676066,0.00006266577,0.9850235,0.00003465508,0.0006095155,0.0001694917,0.00004631272,0.003421579,0.00475115,0.00007250497,0.00006578863,0.004875334],"study_design_scores_gemma":[0.0000559867,0.0003937423,0.9601836,0.00002079602,0.0009559424,0.001964103,0.00006770039,0.03001001,0.005191591,0.0007077562,0.0004299711,0.00001889635],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976088,0.0002833973,0.001716447,0.00003080349,0.000004656818,0.000008260435,0.0001579871,0.00002479297,0.0001648107],"genre_scores_gemma":[0.9991405,0.00003879443,0.0005068621,0.00001155616,0.000005170169,0.000004613598,0.0002443156,0.000005936781,0.00004226868],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004085335,"threshold_uncertainty_score":0.02160555,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02472935431056378,"score_gpt":0.3052372543341203,"score_spread":0.2805079000235565,"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."}}