{"id":"W4401213505","doi":"10.1101/2024.07.29.24311195","title":"ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy","year":2024,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Institutes of Health; Vlaamse regering; Fondation Leducq; Gottfried und Julia Bangerter-Rhyner-Stiftung; Imperial College London; British Heart Foundation; National Institute for Health and Care Research; Medical Research Council; American Heart Association; Cytokinetics; Bristol-Myers Squibb","keywords":"Hypertrophic cardiomyopathy; Gene; Genetics; Genetic heterogeneity; Biology; Disease; Inheritance (genetic algorithm); Bioinformatics; Medicine; Pathology; Phenotype","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":[0.02322459,0.0006825243,0.0009998846,0.007581172,0.00137611,0.001864969,0.002168974,0.001671328,0.005125008],"category_scores_gemma":[0.03698627,0.0002667781,0.001100749,0.003456342,0.0006666632,0.001082825,0.002978552,0.001500306,0.002072092],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002296919,"about_ca_system_score_gemma":0.007513688,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007343967,"about_ca_topic_score_gemma":0.01196338,"domain_scores_codex":[0.9917017,0.002937058,0.001961614,0.001061997,0.001749182,0.0005884544],"domain_scores_gemma":[0.9421833,0.01565212,0.002788579,0.003069033,0.03297678,0.003330184],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008262324,0.000128809,0.1187286,0.003514173,0.0002959468,0.005335423,0.00317612,0.001030708,0.01506433,0.002756255,0.6000606,0.2490827],"study_design_scores_gemma":[0.0003292074,0.0002162521,0.1748979,0.007061641,0.0008915894,0.008844152,0.003256664,0.004844823,0.0109526,0.005559644,0.782957,0.0001884124],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"other","genre_scores_codex":[0.3898062,0.08146119,0.09539288,0.1807031,0.007483588,0.008606822,0.08221224,0.005054121,0.1492799],"genre_scores_gemma":[0.529743,0.0174977,0.2641422,0.04110106,0.00343334,0.004276994,0.1174436,0.001508481,0.02085365],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.02322459,"threshold_uncertainty_score":0.1228248,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0460548704840357,"score_gpt":0.2786763136126543,"score_spread":0.2326214431286186,"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."}}