{"id":"W3012093427","doi":"10.1161/circgen.119.002748","title":"Genetic Testing for Diagnosis of Hypertrophic Cardiomyopathy Mimics","year":2020,"lang":"en","type":"article","venue":"Circulation Genomic and Precision Medicine","topic":"Protein Tyrosine Phosphatases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital; Toronto General Hospital; University of Toronto; Mount Sinai Hospital","funders":"","keywords":"Hypertrophic cardiomyopathy; Genetic testing; Medicine; Noonan syndrome; Genetic diagnosis; Cardiomyopathy; Disease; Internal medicine; Cardiology; Gene; Genetics; Heart failure; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001481341,0.0001026446,0.0001922046,0.00002773862,0.00005058644,0.000004546309,0.00008908244,0.00006758502,0.0000108328],"category_scores_gemma":[0.001087639,0.00009177651,0.00003909818,0.00008432668,0.00007498707,0.000002616905,0.0000576685,0.00003235201,0.00000105983],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006007659,"about_ca_system_score_gemma":0.00003149987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001025114,"about_ca_topic_score_gemma":3.597887e-7,"domain_scores_codex":[0.999234,0.00003060991,0.0002731284,0.0002696831,0.00009164004,0.0001009427],"domain_scores_gemma":[0.999408,0.00009934864,0.0001196327,0.0001641499,0.0001165343,0.0000923047],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0001520095,0.00001122616,0.2116441,0.0001199801,0.00003667429,0.00000114596,0.0001249036,0.001637701,0.6919342,0.00008506616,0.00119201,0.09306093],"study_design_scores_gemma":[0.004664307,0.002722602,0.775169,0.0002075213,0.0002927755,0.0000490393,0.0001337178,0.01257264,0.1748437,0.001594128,0.02720232,0.0005482302],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.939228,0.02522356,0.03452644,0.0004469856,0.00008023806,0.0004124664,0.00004320212,0.000008086039,0.00003102228],"genre_scores_gemma":[0.9912654,0.0004067034,0.007296081,0.0004307584,0.0004474026,0.00004394454,0.00008874485,0.00001709596,0.000003847312],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.563525,"threshold_uncertainty_score":0.3742537,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03539368131714106,"score_gpt":0.2570259536895504,"score_spread":0.2216322723724094,"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."}}