{"id":"W2080856874","doi":"10.1016/j.cjca.2012.01.016","title":"Distinguishing Pathogenic Mutations From Innocuous Rare Variants in Gene Discovery for Brugada Syndrome","year":2012,"lang":"en","type":"letter","venue":"Canadian Journal of Cardiology","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa","funders":"","keywords":"Brugada syndrome; Medicine; Sudden cardiac death; Internal medicine; Cardiology; Ventricular fibrillation; Sudden death","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.002686879,0.001045084,0.001437295,0.001784522,0.002077644,0.002645031,0.00194666,0.0183136,0.001191163],"category_scores_gemma":[0.02722427,0.0007429134,0.001111804,0.0009026161,0.002672916,0.00201976,0.000983977,0.008023224,0.0009259285],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001615454,"about_ca_system_score_gemma":0.001214421,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002053101,"about_ca_topic_score_gemma":0.003822628,"domain_scores_codex":[0.9959496,0.000959638,0.0009297566,0.0004715013,0.0009970875,0.0006924107],"domain_scores_gemma":[0.9875366,0.008957874,0.0006319404,0.0004198225,0.001172521,0.001281259],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0003657474,0.0001124397,0.0405911,0.00009080076,0.00005479944,0.9055415,0.0006932543,0.0003915647,0.003793071,0.00224575,0.03138095,0.01473907],"study_design_scores_gemma":[0.0001640296,0.0001903811,0.01237515,0.0001720608,0.0001039145,0.958795,0.0006426484,0.003506294,0.002144981,0.005766817,0.01607869,0.00006012196],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"commentary","genre_scores_codex":[0.4825284,0.008541339,0.007415463,0.4536292,0.0157223,0.0001737981,0.0002338699,0.0003042858,0.03145143],"genre_scores_gemma":[0.8704293,0.002645404,0.00577751,0.07446764,0.04308598,0.00005137359,0.0001215246,0.0001269871,0.003294402],"genre_candidate":"commentary","genre_consensus":null,"teacher_disagreement_score":0.0183136,"threshold_uncertainty_score":0.01420969,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01435083098857589,"score_gpt":0.233606581616584,"score_spread":0.2192557506280081,"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."}}