{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002844197,0.0006080556,0.000850588,0.001600448,0.0005892961,0.0009099733,0.0004871225,0.0006504522,0.001949987],"category_scores_gemma":[0.003891844,0.0003434971,0.002011429,0.002747699,0.0004442114,0.0004954174,0.00096255,0.0008166661,0.0001867006],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001730535,"about_ca_system_score_gemma":0.0002757727,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005479742,"about_ca_topic_score_gemma":0.006777393,"domain_scores_codex":[0.997977,0.0009800447,0.0002019655,0.0005403853,0.0001902491,0.0001103822],"domain_scores_gemma":[0.997134,0.001055852,0.0006352749,0.0006774194,0.0002720806,0.0002253883],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003491826,0.00002598861,0.9853809,0.00006012572,0.005829481,0.0003389613,0.000164708,0.0003512728,0.00266056,0.0001544171,0.0001656941,0.004518593],"study_design_scores_gemma":[0.00002768331,0.00007871078,0.9931632,0.00002258526,0.003741257,0.000476808,0.0001541348,0.00120194,0.0002543009,0.0003306521,0.0005391897,0.000009450649],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9913166,0.00410442,0.002797514,0.0002500454,0.00003444926,0.00001208868,0.000566119,0.00003593375,0.0008828263],"genre_scores_gemma":[0.9983309,0.0006207783,0.0005347651,0.00004858427,0.00002624031,0.000006420348,0.0003042918,0.00001086882,0.0001172466],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005479742,"threshold_uncertainty_score":0.01504177,"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."}}