{"id":"W6939275403","doi":"10.60692/mera7-c2b67","title":"Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort","year":2019,"lang":"en","type":"article","venue":"Greater South Information System","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children","funders":"","keywords":"Frameshift mutation; Germline; Germline mutation; Breast cancer; Missense mutation; Gene; Genetic testing; DNA sequencing; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002658825,0.0001575541,0.0001670498,0.0001825677,0.00005770342,0.00006709981,0.0001654022,0.0001878251,0.00005097034],"category_scores_gemma":[0.000007085478,0.0001579672,0.00003907355,0.0002814335,0.00002505045,0.00008333874,0.00004170955,0.00009958449,0.000074095],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007021117,"about_ca_system_score_gemma":0.0004059603,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003204963,"about_ca_topic_score_gemma":0.00007573919,"domain_scores_codex":[0.9987507,0.00005089579,0.0005197705,0.0002431659,0.0001870965,0.0002483984],"domain_scores_gemma":[0.999214,0.000003062355,0.0001858777,0.0003363145,0.000200872,0.0000598787],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001158814,0.0000109475,0.8692057,0.0001793274,0.00005747498,0.000001102208,0.008609304,0.07127821,0.04971386,0.00001322884,0.0001261276,0.000688838],"study_design_scores_gemma":[0.005155888,0.0001556792,0.8880361,0.0002065674,0.00004076914,0.0002247329,0.02049998,0.02070478,0.06196703,0.000001685817,0.002010396,0.0009964363],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9929615,0.00001607136,0.003623599,0.0000374719,0.0002507727,0.001980622,0.0005244504,0.00003240672,0.000573148],"genre_scores_gemma":[0.9967437,9.00928e-7,0.0005233194,0.0001624656,0.00005970534,0.001981222,0.0003574775,0.00001716943,0.000153994],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05057343,"threshold_uncertainty_score":0.6441716,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.018785301045297,"score_gpt":0.2428181633408739,"score_spread":0.224032862295577,"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."}}