{"id":"W4388601098","doi":"10.1093/eurheartj/ehad655.882","title":"Polygenic risk score for hypertrophic cardiomyopathy predicts population disease risk, penetrance in sarcomeric rare variant carriers and survival in cases","year":2023,"lang":"en","type":"article","venue":"European Heart Journal","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Heart Institute","funders":"Medical Research Council; British Heart Foundation","keywords":"Genome-wide association study; Hypertrophic cardiomyopathy; Medicine; Penetrance; Population; MYH7; Cardiomyopathy; Internal medicine; SNP; Genetics; Cardiology; Genotype; Single-nucleotide polymorphism; Biology; Heart failure; Gene","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":[0.002956245,0.0006075163,0.000446522,0.001304865,0.0003302519,0.0005632784,0.0005207435,0.0007576502,0.002834535],"category_scores_gemma":[0.009663752,0.0002298076,0.0008371805,0.0007980642,0.0004316093,0.0002765613,0.0007133418,0.0005563537,0.0004762641],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000199861,"about_ca_system_score_gemma":0.0002803598,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003445739,"about_ca_topic_score_gemma":0.001880895,"domain_scores_codex":[0.9990074,0.0003961579,0.00008085193,0.0003050918,0.0001343743,0.00007617701],"domain_scores_gemma":[0.9958839,0.002125793,0.0009386982,0.0003992567,0.0002578671,0.0003944503],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002903745,0.00003671635,0.9939943,0.00001376192,0.0002043276,0.0001134581,0.00005344552,0.001076887,0.0007367183,0.00008041583,0.0002104847,0.003189252],"study_design_scores_gemma":[0.00004433145,0.0002258405,0.9818411,0.00001276525,0.0001961268,0.0005857878,0.00005517523,0.01604836,0.0002832129,0.0004891105,0.000203299,0.00001496565],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965148,0.0001066343,0.002357977,0.00004809152,0.000006357262,0.0000204404,0.000669229,0.00003987851,0.0002364988],"genre_scores_gemma":[0.9977107,0.00003302832,0.001218833,0.00001295788,0.000009858362,0.00001864124,0.0008768038,0.000009122365,0.000109999],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003445739,"threshold_uncertainty_score":0.0156343,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04109496707214693,"score_gpt":0.2858365874216016,"score_spread":0.2447416203494546,"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."}}