{"id":"W4415799561","doi":"10.1161/circ.152.suppl_3.4357141","title":"Abstract 4357141: Polygenic score analyses in a large multinational HCM clinical cohort identifies effects on disease penetrance and severity","year":2025,"lang":"en","type":"article","venue":"Circulation","topic":"Genetic Associations and Epidemiology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; University Health Network; University of British Columbia; London Health Sciences Centre; Western University; Université de Montréal; Montreal Heart Institute","funders":"","keywords":"Penetrance; Hypertrophic cardiomyopathy; Cohort; Disease; Cardiomyopathy; Proportional hazards model; Heart failure","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.003156089,0.0005059487,0.0004835427,0.0008203897,0.0006534935,0.0007279463,0.0005751128,0.0004158671,0.002409459],"category_scores_gemma":[0.004831835,0.0001719873,0.0007212228,0.001445936,0.0005209,0.000184127,0.0008388543,0.0004459902,0.0002983635],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004402601,"about_ca_system_score_gemma":0.000737398,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.04126577,"about_ca_topic_score_gemma":0.03962032,"domain_scores_codex":[0.9984776,0.0007211533,0.00009725733,0.0004452181,0.0001545611,0.0001041559],"domain_scores_gemma":[0.9971033,0.000963042,0.0006948177,0.0007276115,0.0002280764,0.00028321],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005503623,0.00004036603,0.9927113,0.00001330475,0.0004161519,0.0002340706,0.0001269244,0.0003388219,0.001258018,0.00004879615,0.0004750514,0.003786784],"study_design_scores_gemma":[0.00004507383,0.00007721574,0.9982917,0.000003814879,0.0001245754,0.0002251962,0.0000514148,0.00073014,0.0001086436,0.00004108272,0.0002966091,0.00000465199],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977921,0.00006538664,0.0006001718,0.0000466036,0.000003548484,0.00001576924,0.001266843,0.00001705966,0.0001925013],"genre_scores_gemma":[0.9954495,0.00004732248,0.001299742,0.00003552458,0.00001098284,0.00004328034,0.002710438,0.00002217875,0.0003808668],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04126577,"threshold_uncertainty_score":0.08205116,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02708536662708385,"score_gpt":0.3684780468852791,"score_spread":0.3413926802581952,"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."}}