{"id":"W4249539835","doi":"10.1016/j.nmd.2020.08.108","title":"CONGENITAL MYOPATHIES 2","year":2020,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Titin; Exome sequencing; Muscle biopsy; Frameshift mutation; Genetics; Compound heterozygosity; Genetic testing; RYR1; Medicine; Congenital myopathy; Bioinformatics; Phenotype; Pathology; Biology; Biopsy; Gene; Internal medicine; Sarcomere","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":[0.000287552,0.001168447,0.0004965002,0.002209622,0.001085426,0.0007225964,0.0007884668,0.001321746,0.02831759],"category_scores_gemma":[0.001052757,0.0002829857,0.0005601288,0.001190626,0.0007990728,0.0007255065,0.00115029,0.0008119789,0.004124566],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003798099,"about_ca_system_score_gemma":0.0005291576,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002031693,"about_ca_topic_score_gemma":0.00275783,"domain_scores_codex":[0.9995483,0.00003457687,0.00003767518,0.0001177433,0.00009922595,0.0001625202],"domain_scores_gemma":[0.9995448,0.0001164048,0.00007780089,0.00004092424,0.00008446367,0.0001355358],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002465346,0.0001144691,0.1129753,0.000376405,0.000120689,0.743726,0.0005179936,0.0003724761,0.03183652,0.009293343,0.02235781,0.07806241],"study_design_scores_gemma":[0.00004181112,0.0001768984,0.1085124,0.0002091274,0.000109628,0.8296458,0.0002786988,0.0003889103,0.007256066,0.001610818,0.05173836,0.00003146062],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.5218365,0.0146864,0.006148741,0.003320981,0.001353233,0.000196122,0.002708313,0.0008327875,0.448917],"genre_scores_gemma":[0.9111689,0.003964366,0.003681511,0.001793792,0.0012738,0.00006166804,0.001689631,0.0002076455,0.07615873],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02831759,"threshold_uncertainty_score":0.09473181,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01561310927272134,"score_gpt":0.2290503454587916,"score_spread":0.2134372361860703,"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."}}