{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008372997,0.0002438917,0.0002762722,0.001835148,0.0002815212,0.0003592498,0.0003293187,0.0004588196,0.001995089],"category_scores_gemma":[0.00483467,0.00009784034,0.0001704375,0.0007014303,0.0003556962,0.00027344,0.0003399805,0.0003221842,0.0004310164],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002422532,"about_ca_system_score_gemma":0.0003488631,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001087001,"about_ca_topic_score_gemma":0.0008436686,"domain_scores_codex":[0.9994253,0.0001634691,0.00007432276,0.00006804219,0.0002037057,0.00006520722],"domain_scores_gemma":[0.9981818,0.0009598678,0.0003423485,0.00007420467,0.0002317893,0.0002100344],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001935419,0.00006124385,0.9030011,0.0001205648,0.00003812884,0.04014143,0.0001845625,0.0003904293,0.005517553,0.0007515569,0.004824436,0.04477524],"study_design_scores_gemma":[0.00005295547,0.0003715005,0.6354307,0.0005587697,0.0001374689,0.3389013,0.0006188888,0.003662615,0.006795154,0.002542817,0.01088964,0.00003812058],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9654232,0.009647374,0.004467446,0.003292697,0.0001500671,0.0001129846,0.000949488,0.000179689,0.01577699],"genre_scores_gemma":[0.9941949,0.002108593,0.002302491,0.0004982968,0.0001619114,0.00001270903,0.0003721216,0.00001165523,0.0003374659],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001995089,"threshold_uncertainty_score":0.00667423,"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."}}