{"id":"W2914699660","doi":"10.1016/j.jmoldx.2019.01.004","title":"Genetic Diagnostic Testing for Inherited Cardiomyopathies","year":2019,"lang":"en","type":"article","venue":"Journal of Molecular Diagnostics","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa; Children's Hospital of Eastern Ontario","funders":"","keywords":"Genetic testing; Sanger sequencing; Turnaround time; Medicine; Medical genetics; Genetic heterogeneity; Gene; Human genetics; DNA sequencing; Genetics; Bioinformatics; Computational biology; Biology; Phenotype; Computer science","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":["metaresearch"],"consensus_categories":[],"category_scores_codex":[0.0003769695,0.0001978067,0.0006865388,0.0001904355,0.00005591655,0.00003091336,0.0001125305,0.00009810691,0.000006537467],"category_scores_gemma":[0.01388826,0.000170601,0.0004217732,0.0002817487,0.00006188541,0.00005227564,0.00005962143,0.0002460727,0.00001521948],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006426059,"about_ca_system_score_gemma":0.00017036,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003887878,"about_ca_topic_score_gemma":3.203714e-7,"domain_scores_codex":[0.9985166,0.00005247565,0.0005594151,0.0001693415,0.0004131531,0.0002889869],"domain_scores_gemma":[0.9956915,0.002815233,0.0003177102,0.0002569226,0.0007595837,0.0001590173],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003958311,0.0003974497,0.8728074,0.0008780296,0.001325829,0.004926858,0.0004893029,0.001473253,0.07376183,0.0002358087,0.009165533,0.03414281],"study_design_scores_gemma":[0.009538299,0.007260006,0.9015746,0.002806731,0.004174279,0.00773882,0.0008388935,0.0002585975,0.01971871,0.001523999,0.04379817,0.0007688645],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9701331,0.01705634,0.01017737,0.0003677279,0.000940777,0.000674448,0.00001431286,0.00002282984,0.0006131426],"genre_scores_gemma":[0.9768144,0.0010291,0.02093115,0.0005617659,0.0005505439,0.00002070512,0.000003141571,0.00004680491,0.00004241877],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05404311,"threshold_uncertainty_score":0.9944182,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0148514264566009,"score_gpt":0.2576846752601085,"score_spread":0.2428332488035076,"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."}}