{"id":"W2042645676","doi":"10.1007/s10689-005-2578-0","title":"An Analysis of Unclassified Missense Substitutions in Human BRCA1","year":2006,"lang":"en","type":"article","venue":"Familial Cancer","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Center for Research Resources; Canadian Institutes of Health Research; National Institutes of Health","keywords":"Missense mutation; Genetics; Biology; Human genetics; Gene; Mutation; Computational biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002268672,0.000757786,0.0005667811,0.0009487713,0.0005721453,0.0003936377,0.0005515476,0.001037981,0.001792597],"category_scores_gemma":[0.001083315,0.000253627,0.000715836,0.0005420633,0.0003200635,0.0001548422,0.0003016991,0.0004915813,0.0006554467],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003423165,"about_ca_system_score_gemma":0.0003034082,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001484676,"about_ca_topic_score_gemma":0.001782053,"domain_scores_codex":[0.999703,0.00005438582,0.00005350564,0.00007494886,0.00008065478,0.00003345342],"domain_scores_gemma":[0.9992834,0.0002949789,0.0001639888,0.00005762761,0.00007711382,0.0001229038],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002881625,0.0003730283,0.02195974,0.0004280961,0.0004089599,0.04645937,0.0005650906,0.001448105,0.8983573,0.000700417,0.001006085,0.0254121],"study_design_scores_gemma":[0.0003431252,0.001456862,0.1355218,0.0001601923,0.001195636,0.117149,0.0004040201,0.005410593,0.7209355,0.0005287938,0.0167628,0.000131622],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935417,0.001329556,0.00213408,0.0001809148,0.0001519155,0.00005476183,0.001163696,0.000117489,0.001325822],"genre_scores_gemma":[0.9955686,0.0003540688,0.002108246,0.0001485644,0.00003857667,0.00001829524,0.0008856377,0.00004068719,0.0008374405],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001792597,"threshold_uncertainty_score":0.005996883,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0109708980507853,"score_gpt":0.2874064124502114,"score_spread":0.2764355143994262,"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."}}