{"id":"W4318706872","doi":"10.1101/2023.01.28.23285147","title":"Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy","year":2023,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; University Health Network; SickKids Foundation; University of Toronto; Université de Montréal; Hospital for Sick Children; Montreal Heart Institute","funders":"Amsterdam Cardiovascular Sciences, Amsterdam University Medical Centers; National Institutes of Health; National Heart, Lung, and Blood Institute; UK Dementia Research Institute; Medical Research Council; Institut de Cardiologie de Montréal; Fondation Institut de Cardiologie de Montréal; Amsterdam University Medical Centers; Fondation Leducq; Deutsches Zentrum für Herz-Kreislaufforschung; European Commission; Canadian Institutes of Health Research; Imperial College London; National Institute for Health and Care Research; ZonMw; Novo Nordisk Fonden; Israel Cancer Research Fund; Wellcome Trust; Alzheimer's Society; British Heart Foundation","keywords":"Hypertrophic cardiomyopathy; Genome-wide association study; Mendelian randomization; Genetic association; Disease; Biology; Genetics; Cardiomyopathy; Internal medicine; Gene; Medicine; Genetic variants; Genotype; Single-nucleotide polymorphism; Heart failure","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":[0.000822033,0.000361883,0.0003270894,0.0005440383,0.000255395,0.0005236709,0.0002028778,0.0004970244,0.002406343],"category_scores_gemma":[0.001419353,0.0001464145,0.0003502233,0.0005777235,0.0003157712,0.0001279224,0.0004879174,0.00032446,0.0002721341],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007812727,"about_ca_system_score_gemma":0.0001499111,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004849471,"about_ca_topic_score_gemma":0.0009360504,"domain_scores_codex":[0.9996312,0.0001596854,0.00002339754,0.00008880851,0.00005851462,0.00003845491],"domain_scores_gemma":[0.9993485,0.0003581221,0.0001428143,0.00006221329,0.00001974867,0.00006852803],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004225184,0.0002440248,0.7823013,0.0004102042,0.002101988,0.005221816,0.0008155708,0.001265274,0.1171731,0.001011092,0.004141423,0.08108901],"study_design_scores_gemma":[0.0001486739,0.0001776634,0.9931254,0.00002470514,0.0002745938,0.001311274,0.0001257063,0.0005176058,0.002021688,0.0005882737,0.001671646,0.00001259308],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925252,0.003502253,0.002142091,0.0004297224,0.00003133325,0.00001345857,0.0005192465,0.00006138614,0.0007751729],"genre_scores_gemma":[0.9953276,0.0009750586,0.002004116,0.000159422,0.000065751,0.00001589466,0.000808854,0.0000148415,0.0006285583],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002406343,"threshold_uncertainty_score":0.008049965,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04683006029769368,"score_gpt":0.3137683455527378,"score_spread":0.2669382852550441,"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."}}