{"id":"W2098230498","doi":"10.1136/jmedgenet-2014-102766","title":"BRCA1 Circos: a visualisation resource for functional analysis of missense variants","year":2015,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Cancer Institute; National Institutes of Health; Moffitt Cancer Center; World Health Organization","keywords":"Missense mutation; Biology; Genetics; Computational biology; Germline; Bioinformatics; Mutation; Gene","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":[0.001330743,0.00008486709,0.0002290377,0.00017503,0.00002437134,0.00001075107,0.0002138495,0.0002058282,0.00004666618],"category_scores_gemma":[0.001295529,0.00007642815,0.0002049066,0.000292426,0.0000875274,0.000002664519,0.00004484099,0.00009549076,6.619249e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00005148179,"about_ca_system_score_gemma":0.0008807682,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002647113,"about_ca_topic_score_gemma":0.00001354648,"domain_scores_codex":[0.9982938,0.00008957815,0.0005415966,0.0001354454,0.000817498,0.000122112],"domain_scores_gemma":[0.9984334,0.00006599266,0.0003915479,0.0001844983,0.0006920626,0.0002324933],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.003753773,0.001656911,0.02331134,0.0001976979,0.01564263,0.00007820631,0.00251632,0.1257173,0.3276866,0.0006840274,0.4127105,0.08604466],"study_design_scores_gemma":[0.01354712,0.00484173,0.05419032,0.0001560144,0.006614947,0.0007555044,0.003023948,0.05969734,0.1542588,0.00140206,0.7006727,0.0008395052],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8217849,0.002362025,0.1738653,0.001250957,0.0004722417,0.00009114265,0.0000320068,0.000002149957,0.0001393824],"genre_scores_gemma":[0.9917334,0.0002065842,0.00641233,0.0004991976,0.0009450632,0.000004174167,0.00007887969,0.00001580275,0.0001045118],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2879622,"threshold_uncertainty_score":0.311665,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05167258133133084,"score_gpt":0.3478196013779571,"score_spread":0.2961470200466262,"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."}}