{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004810003,0.0002256996,0.0002994741,0.001210968,0.0003029506,0.0004132273,0.0002734178,0.000438897,0.002461739],"category_scores_gemma":[0.002015906,0.0001037351,0.0002829169,0.0005836822,0.0005403924,0.0002067577,0.0002860165,0.0002436081,0.0001950194],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009851374,"about_ca_system_score_gemma":0.00009202574,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007149953,"about_ca_topic_score_gemma":0.0009839395,"domain_scores_codex":[0.9996076,0.00007280716,0.00004223761,0.0001649218,0.00006937152,0.00004316356],"domain_scores_gemma":[0.9989109,0.0005397238,0.0003324366,0.00006464046,0.00005878837,0.00009347259],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006562005,0.00003815195,0.9546538,0.0000453174,0.000131017,0.002739505,0.0002670749,0.0002372898,0.03307534,0.0001002769,0.0001185622,0.007937377],"study_design_scores_gemma":[0.00001627494,0.000114417,0.9918309,0.00000939724,0.00006727403,0.005283406,0.0001097873,0.0005203779,0.00177084,0.00009847046,0.0001726051,0.000006148982],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99939,0.0001775856,0.0002269213,0.0000149457,0.000001534624,0.0000020213,0.0000664279,0.00000341795,0.0001170668],"genre_scores_gemma":[0.9996681,0.00004118725,0.0001379573,0.000009220837,0.00000379415,0.000001951799,0.00008156725,0.000001967624,0.00005425349],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002461739,"threshold_uncertainty_score":0.008235335,"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."}}