{"id":"W2119321284","doi":"10.1038/ejhg.2008.92","title":"Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy","year":2008,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":105,"is_retracted":false,"has_abstract":false,"ca_institutions":"Institute of Health Services and Policy Research","funders":"ZonMw","keywords":"Hypertrophic cardiomyopathy; Proband; Genetic testing; Genetic counseling; Predictive testing; Medicine; Sudden cardiac death; Sudden death; Cardiomyopathy; Internal medicine; Cardiology; Family history; Mutation; Heart failure; Genetics; Biology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006094244,0.0001529746,0.0005233712,0.000214148,0.0001008754,0.000007215496,0.00009120801,0.0000233641,0.000002829114],"category_scores_gemma":[0.00008406057,0.0001351252,0.0001222192,0.0001785446,0.0002355714,0.0000287177,0.0000315501,0.0002584732,0.000001440542],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002259315,"about_ca_system_score_gemma":0.00005276199,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00000116184,"about_ca_topic_score_gemma":4.939892e-7,"domain_scores_codex":[0.9984207,0.0001643305,0.0007620719,0.0001485759,0.0003187725,0.0001856043],"domain_scores_gemma":[0.9989656,0.00005966267,0.0003260503,0.0001687264,0.0003681055,0.0001118938],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005937897,0.0003510657,0.7378601,0.0003748298,0.000634538,0.01753485,0.01879967,0.004922587,0.1941726,0.00001222761,0.0005359761,0.02420779],"study_design_scores_gemma":[0.002107582,0.00233202,0.9858654,0.0004220007,0.0002743464,0.005935356,0.0004238188,0.0001502429,0.001309311,0.00004019463,0.001008206,0.0001315796],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9782221,0.01905194,0.0006711692,0.00001650054,0.000124497,0.0001134042,0.000004580118,0.000007229313,0.00178854],"genre_scores_gemma":[0.9907968,0.005805761,0.002818653,0.0000375961,0.0004709395,4.439046e-7,7.240557e-7,0.0000348707,0.00003418546],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2480053,"threshold_uncertainty_score":0.5510246,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04438335470076332,"score_gpt":0.2462020133430559,"score_spread":0.2018186586422926,"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."}}