{"id":"W2885344095","doi":"10.1161/circ.132.suppl_3.16468","title":"Abstract 16468: Results of Research Genetic Testing in Pediatric Cardiomyopathy Patients Justify Broader Clinical Genetic Testing","year":2015,"lang":"en","type":"article","venue":"Circulation","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Stollery Children's Hospital","funders":"","keywords":"Medicine; Genetic testing; Cardiomyopathy; Proband; Exome sequencing; Exome; Family history; Disease; Restrictive cardiomyopathy; Internal medicine; Mutation; Bioinformatics; Genetics; Heart failure; Gene; Biology","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":[0.003629073,0.0003054648,0.0003821028,0.0009192274,0.0004611982,0.0009699949,0.0004661499,0.0007213572,0.006159057],"category_scores_gemma":[0.01635884,0.000118695,0.0002010339,0.0009235638,0.0005906797,0.0006958877,0.0005566889,0.0007719193,0.001631345],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005252874,"about_ca_system_score_gemma":0.0006154798,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001167739,"about_ca_topic_score_gemma":0.00116892,"domain_scores_codex":[0.9964916,0.001028579,0.0003598905,0.000507954,0.001237454,0.0003744093],"domain_scores_gemma":[0.9876841,0.006116052,0.003045957,0.0007051036,0.001551723,0.000897086],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001025877,0.00003536008,0.9802998,0.00004339508,0.00001590404,0.00131425,0.0001252367,0.00006433734,0.0009796323,0.0002116744,0.001695057,0.01511273],"study_design_scores_gemma":[0.00001622897,0.000203037,0.9815609,0.0001854233,0.00004591383,0.008977361,0.0005181116,0.0005225186,0.001790603,0.0004254089,0.0057469,0.000007609253],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9798226,0.003483634,0.001203424,0.002295065,0.0001129107,0.00007152861,0.001022463,0.00006286533,0.01192542],"genre_scores_gemma":[0.9962126,0.0006494789,0.001117644,0.0007647091,0.000153499,0.00003739932,0.0005228703,0.00002272215,0.0005190799],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006159057,"threshold_uncertainty_score":0.02060413,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.2567982826324284,"score_gpt":0.4124412104566323,"score_spread":0.1556429278242039,"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."}}