{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004601473,0.0006525056,0.0002767847,0.002488199,0.000431969,0.0004637608,0.0005796822,0.001202193,0.003075867],"category_scores_gemma":[0.002452743,0.0001217307,0.0003854882,0.000594521,0.0004577363,0.0003615363,0.000310361,0.0004452598,0.0004210847],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003032736,"about_ca_system_score_gemma":0.0003252764,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001193044,"about_ca_topic_score_gemma":0.001175854,"domain_scores_codex":[0.9995958,0.00009690169,0.00005160033,0.00005159599,0.0001280081,0.000076162],"domain_scores_gemma":[0.9992267,0.0004121556,0.00007990443,0.00002174818,0.0001322839,0.0001270959],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008539309,0.0003775589,0.6849778,0.0002722122,0.0001775501,0.1469642,0.0005355284,0.0007303057,0.05877718,0.003126817,0.01083408,0.09237296],"study_design_scores_gemma":[0.0001287257,0.0009004487,0.58767,0.0009757477,0.0004829304,0.3333282,0.001697649,0.005490992,0.0378411,0.004991348,0.02642857,0.00006412069],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.934979,0.01818163,0.005823009,0.007925616,0.000615128,0.00007424941,0.0009694211,0.0001650606,0.03126685],"genre_scores_gemma":[0.9911816,0.002775861,0.003035454,0.0008821919,0.0003039353,0.00001467569,0.0003498648,0.00001824981,0.001438126],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.003075867,"threshold_uncertainty_score":0.01028979,"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."}}