{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00004256475,0.000145208,0.0002676044,0.00003372903,0.00008372375,0.000014817,0.00006070058,0.00004316081,0.00006817072],"category_scores_gemma":[0.000190147,0.0001312221,0.0002674811,0.0002072473,0.0001072707,0.00005201295,0.00006862407,0.000165869,0.0001361454],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006869975,"about_ca_system_score_gemma":0.00002680877,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000009397587,"about_ca_topic_score_gemma":0.000004524649,"domain_scores_codex":[0.9991237,0.00003226898,0.0001357798,0.0002783638,0.0002288151,0.0002010621],"domain_scores_gemma":[0.9995766,0.00002319296,0.00002439346,0.000180216,0.00003744392,0.0001581155],"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":[0.003113674,0.001427607,0.4293312,0.002179037,0.003774019,0.003293734,0.02491415,0.0002163815,0.1185278,0.005630582,0.1239651,0.2836267],"study_design_scores_gemma":[0.00467342,0.001390657,0.2816934,0.00003371027,0.000779741,0.0001359007,0.002354185,0.0002979226,0.00180476,0.0002011525,0.7060605,0.0005746211],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9552003,0.003169122,0.0004340969,0.01616687,0.0002859426,0.0004177372,0.000009727835,0.0002874229,0.02402877],"genre_scores_gemma":[0.9944931,0.0005340548,0.000098471,0.004538239,0.0001832761,0.0000184755,0.000009768277,0.00002756562,0.00009710105],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5820954,"threshold_uncertainty_score":0.5351081,"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."}}