{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01070376,0.0003409167,0.0004765913,0.003390354,0.000737462,0.001461985,0.001806151,0.003307733,0.006785663],"category_scores_gemma":[0.07932097,0.0003448765,0.0005062252,0.001591918,0.0008632265,0.001969525,0.001541661,0.001951253,0.000768148],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001683251,"about_ca_system_score_gemma":0.002372929,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02526214,"about_ca_topic_score_gemma":0.01716573,"domain_scores_codex":[0.9849134,0.006766554,0.001080894,0.001205331,0.004334228,0.001699564],"domain_scores_gemma":[0.9071808,0.0696406,0.006423672,0.003188964,0.009271367,0.004294677],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000449176,0.0003267856,0.904541,0.0001740911,0.00005779881,0.003445014,0.002931509,0.0006527879,0.001243945,0.001411939,0.004423404,0.08034258],"study_design_scores_gemma":[0.00008300333,0.0005412495,0.9664777,0.0008921598,0.0002158059,0.00917876,0.003898336,0.006843062,0.00160824,0.001776381,0.008412845,0.00007244176],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9442556,0.004557216,0.001079103,0.03042705,0.0003574076,0.00005669016,0.0004723416,0.00007951586,0.0187151],"genre_scores_gemma":[0.9965648,0.0008380727,0.0003312313,0.001246726,0.000204584,0.00001498653,0.0001124216,0.00001726417,0.0006699998],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02526214,"threshold_uncertainty_score":0.05660754,"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."}}