{"id":"W3133895834","doi":"10.1093/europace/euaa421","title":"Enrichment of loss-of-function and copy number variants in ventricular cardiomyopathy genes in ‘lone’ atrial fibrillation","year":2020,"lang":"en","type":"article","venue":"EP Europace","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":27,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children; University of British Columbia; SickKids Foundation; Western University","funders":"Canadian Institutes of Health Research; Schulich School of Medicine and Dentistry; Canadian Open Neuroscience Platform; GlaxoSmithKline; University of Toronto; Heart and Stroke Foundation of Canada; Canadian Cardiovascular Society; Hospital for Sick Children; University of British Columbia","keywords":"Cardiomyopathy; Genetics; Sanger sequencing; Context (archaeology); Exome sequencing; Atrial fibrillation; Copy-number variation; Biology; Candidate gene; Exome; Odds ratio; Hypertrophic cardiomyopathy; Internal medicine; Gene; Phenotype; Medicine; Mutation; Heart failure; Genome","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001223414,0.00007721611,0.0003088049,0.00005211629,0.00001039446,0.000001735064,0.00001526133,0.00005327578,0.00001893654],"category_scores_gemma":[0.00009869193,0.00007338339,0.00008456005,0.00029963,0.00003252632,0.00003378265,0.00002538001,0.00009241795,0.000009235665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001974538,"about_ca_system_score_gemma":0.0000335321,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003511112,"about_ca_topic_score_gemma":0.000001075427,"domain_scores_codex":[0.9992833,0.000120081,0.00020838,0.0001707633,0.0001111538,0.0001062947],"domain_scores_gemma":[0.9997138,0.00004763849,0.00007575662,0.00008973914,0.00003223688,0.00004079183],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002477832,0.00002515709,0.940408,0.0001826016,0.00008635842,0.0006653704,0.000389634,0.003374593,0.0490467,0.000189492,0.000105725,0.003048563],"study_design_scores_gemma":[0.003752922,0.0006088819,0.9858182,0.00007215145,0.0001218546,0.0001540125,0.00004076215,0.0007889568,0.007280173,0.000106731,0.001140604,0.0001147524],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996949,0.001977863,0.0001984609,0.0003476948,0.0001265253,0.0002145781,0.000003327183,0.00000835056,0.0001742601],"genre_scores_gemma":[0.9990397,0.0004237836,0.00008931745,0.00004758665,0.0003648349,0.000001039244,0.00001036206,0.000008263714,0.00001511632],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04541023,"threshold_uncertainty_score":0.2992488,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01060316188752876,"score_gpt":0.248245940678519,"score_spread":0.2376427787909903,"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."}}