{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007221974,0.0008624776,0.001517835,0.001841108,0.0001677036,0.0009290742,0.0008396599,0.001137522,0.003552232],"category_scores_gemma":[0.0008523558,0.0001893988,0.0006121575,0.00157648,0.0004384939,0.0007367932,0.0005381895,0.001771488,0.001663406],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004974619,"about_ca_system_score_gemma":0.0009176806,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007869528,"about_ca_topic_score_gemma":0.001815713,"domain_scores_codex":[0.9998449,0.0000307959,0.00002373777,0.00003417203,0.0000467939,0.00001954824],"domain_scores_gemma":[0.9995309,0.0002809993,0.00005612241,0.00001289699,0.00008309968,0.00003609098],"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":[0.0001227373,0.00003420129,0.0006241516,0.008289901,0.0002493176,0.000490338,0.00003247703,0.0005170718,0.002527122,0.004712633,0.02694321,0.9554567],"study_design_scores_gemma":[0.00007875243,0.0001386775,0.005767825,0.006645123,0.0006180279,0.005181148,0.00008432111,0.0003358878,0.0007934516,0.007925747,0.9723849,0.00004615896],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001747129,0.9976485,0.0004134433,0.0006071439,0.0002257513,0.000003150942,0.00003370644,0.00001492101,0.0008785889],"genre_scores_gemma":[0.001097078,0.9975613,0.0003332064,0.0002719813,0.0002172848,0.000005412353,0.00006155111,0.000002291763,0.0004497898],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003552232,"threshold_uncertainty_score":0.01188338,"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."}}