{"id":"W3027724762","doi":"10.1161/circulationaha.120.045956","title":"Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome","year":2020,"lang":"en","type":"article","venue":"Circulation","topic":"Cardiac electrophysiology and arrhythmias","field":"Medicine","cited_by":141,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University and Génome Québec Innovation Centre; Montreal Heart Institute","funders":"European Social Fund; National Heart, Lung, and Blood Institute; Münchner Zentrum für Gesundheitswissenschaften; Helmholtz Zentrum München; European Society of Cardiology; Instituto de Salud Carlos III; National Institute of General Medical Sciences; H. Lundbeck A/S; Novo Nordisk; Hjärt-Lungfonden; Lundbeckfonden; Fondation pour la Recherche Médicale; Agence Nationale de la Recherche; Fondation Leducq; British Heart Foundation; Wellcome Trust; European Regional Development Fund; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; Heart Rhythm Society; Broad Institute; European Commission; Fondation Maladies Rares; Pfizer; Japan Agency for Medical Research and Development; National Center for Advancing Translational Sciences; Medical Research Council; Bayer; Bristol-Myers Squibb","keywords":"Heritability; Medicine; Genetic architecture; Genome-wide association study; Long QT syndrome; Genetic association; Genetics; Association (psychology); Single-nucleotide polymorphism; QT interval; Internal medicine; Genotype; Gene; Quantitative trait locus; Biology; Population; Environmental health","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":[],"consensus_categories":[],"category_scores_codex":[0.0001609318,0.00006761135,0.0001986331,0.00003221966,0.00003336637,0.000004620547,0.0000270994,0.00006135162,0.00000484789],"category_scores_gemma":[0.000192613,0.00005034117,0.00004803213,0.0001976261,0.00002663936,0.00003134989,0.000006186273,0.0001675854,0.000001150307],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004333071,"about_ca_system_score_gemma":0.00002980557,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001275657,"about_ca_topic_score_gemma":0.00003120592,"domain_scores_codex":[0.9991993,0.0002286997,0.0001821204,0.0001669544,0.0001359443,0.00008697376],"domain_scores_gemma":[0.9995834,0.0001862761,0.00006379186,0.0001103891,0.00003059455,0.00002554068],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008130212,0.00008649241,0.9806613,0.0001056803,0.00004746429,0.0001209481,0.01080863,0.0013408,0.00552113,0.000002545293,0.000001108918,0.001222595],"study_design_scores_gemma":[0.0005789052,0.0002483034,0.9982175,0.00001004088,0.00007532681,0.00004014101,0.0002357769,0.0001973332,0.00004455569,0.0003025638,0.000004452766,0.00004514913],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968518,0.0005725088,0.0002639471,0.001407663,0.00001364874,0.0008567392,0.000001422824,0.0000110742,0.00002121156],"genre_scores_gemma":[0.999593,0.00001098093,0.00002113243,0.0002907041,0.00004307225,0.00002064133,0.00001370281,0.000005565998,0.000001198449],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01755615,"threshold_uncertainty_score":0.2052853,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01277253752744472,"score_gpt":0.2352520704580921,"score_spread":0.2224795329306474,"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."}}