{"id":"W4213416315","doi":"10.1038/s41588-021-01007-6","title":"Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility","year":2022,"lang":"en","type":"review","venue":"Nature Genetics","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":142,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; Université de Montréal; Montreal Heart Institute","funders":"National Institute of General Medical Sciences; National Human Genome Research Institute; Münchner Zentrum für Gesundheitswissenschaften; Helmholtz Zentrum München; Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers; National Institutes of Health; University College London Hospitals NHS Foundation Trust; Centre National de la Recherche Scientifique; Fonds Wetenschappelijk Onderzoek; Horizon 2020 Framework Programme; KU Leuven; Fondation pour la Recherche Médicale; ZonMw; Institut National de la Santé et de la Recherche Médicale; CHIST-ERA; Agence Nationale de la Recherche; Fondation Leducq; European Society of Cardiology; National Heart, Lung, and Blood Institute; Health~Holland; European Commission; American Heart Association; Broad Institute; Heart Rhythm Society; Deutsches Zentrum für Herz-Kreislaufforschung; Innoviris; Foundation for Cardiovascular Research; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; Fédération Française de Cardiologie; Bayer; British Heart Foundation; Wellcome Trust; Hjerteforeningen","keywords":"Biology; Brugada syndrome; Genome-wide association study; Mechanism (biology); Genetics; Disease; Genetic association; Sodium channel; Computational biology; Single-nucleotide polymorphism; Gene; Genotype; Neuroscience; Internal medicine; Sodium","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000465634,0.0004114978,0.001814931,0.0003907282,0.00008844217,0.00001677799,0.0001407411,0.0009867172,0.0001548318],"category_scores_gemma":[0.0007966205,0.0003786571,0.0006113175,0.0007330136,0.00003374353,0.00004055016,0.0001545951,0.001617249,0.000005743133],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006228263,"about_ca_system_score_gemma":0.001051994,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008320341,"about_ca_topic_score_gemma":0.0000682114,"domain_scores_codex":[0.9972664,0.0004445296,0.0007269855,0.0006889527,0.0005280372,0.0003451373],"domain_scores_gemma":[0.9978108,0.0003760288,0.0008613981,0.0005921379,0.00008921041,0.0002704471],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.003107178,0.002130928,0.04306551,0.1134409,0.01954819,0.003954121,0.003094492,0.001266392,0.0009410043,0.0005040725,0.02406959,0.7848776],"study_design_scores_gemma":[0.002717641,0.0007481726,0.5340989,0.002623197,0.01794359,0.0001976384,0.00003372292,0.00008153306,0.0001041717,0.01275434,0.4274095,0.001287636],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.03709688,0.9609876,0.00007461394,0.0001905538,0.0003956482,0.001076278,0.0001301506,0.00002929689,0.00001901917],"genre_scores_gemma":[0.04894484,0.9481609,0.0001734859,0.00009384726,0.0004730544,0.00002155361,0.001089344,0.00005165127,0.0009913541],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.78359,"threshold_uncertainty_score":0.9998665,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02308603437281297,"score_gpt":0.321239891897642,"score_spread":0.298153857524829,"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."}}