{"id":"W3122115907","doi":"10.1038/s41588-020-00764-0","title":"Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity","year":2021,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":339,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Calgary; Foothills Medical Centre; Montreal Heart Institute; University Health Network; University of Toronto; Royal Victoria Hospital; McGill University Health Centre; Université Laval; Royal Victoria Regional Health Centre","funders":"National Heart, Lung, and Blood Institute; Medical Research Council; European Commission; Department of Health and Social Care; National Institute for Health and Care Research; National Institutes of Health; U.S. Department of Health and Human Services; NIHR BioResource; Novo Nordisk Fonden; Cancer Research UK; Biomedical Research Council; British Heart Foundation; NIHR Oxford Biomedical Research Centre; Wellcome Trust; Wellcome; NHS Blood and Transplant","keywords":"Hypertrophic cardiomyopathy; Biology; Genome-wide association study; Genetics; Mendelian randomization; Odds ratio; Sarcomere; Single-nucleotide polymorphism; Candidate gene; Internal medicine; Genotype; Gene; Medicine; Genetic variants; Endocrinology","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":[0.001197803,0.0008199368,0.0005334861,0.001874086,0.0006296373,0.001101272,0.0009463085,0.001074393,0.005138824],"category_scores_gemma":[0.004067554,0.0004513922,0.0007106263,0.001191806,0.001132694,0.000820575,0.001060744,0.001138125,0.0003584696],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002338257,"about_ca_system_score_gemma":0.0002484927,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001822899,"about_ca_topic_score_gemma":0.001760833,"domain_scores_codex":[0.9989983,0.0002964383,0.0001023104,0.0002974612,0.000155684,0.0001497887],"domain_scores_gemma":[0.9975948,0.00100638,0.0006973082,0.0003158459,0.0001495824,0.000236002],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008404616,0.00008843924,0.9454709,0.00007032388,0.0005618389,0.002678951,0.00087848,0.0002283859,0.03462104,0.002223559,0.0002892012,0.01204848],"study_design_scores_gemma":[0.00002001019,0.00009888809,0.9910308,0.00006418731,0.0002475239,0.002599568,0.0005257016,0.0004241657,0.002061091,0.002315592,0.000591945,0.00002044013],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927912,0.001789554,0.001987995,0.0003619391,0.00005068543,0.00001488957,0.0002713201,0.00002578759,0.002706644],"genre_scores_gemma":[0.9980275,0.0004055884,0.0006235095,0.00006659311,0.00007771095,0.000008642013,0.00012716,0.00002205768,0.0006411802],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005138824,"threshold_uncertainty_score":0.01719105,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01456130707113004,"score_gpt":0.2599788649890439,"score_spread":0.2454175579179138,"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."}}