{"id":"W2147935385","doi":"10.1002/mgg3.142","title":"Novel pathogenic variants and genes for myopathies identified by whole exome sequencing","year":2015,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Helios Education Foundation; Translational Genomics Research Institute; Freeport-McMoRan Foundation; Muscular Dystrophy Association; Arnold P. Gold Foundation","keywords":"Exome sequencing; Genetics; Gene; Exome; Biology; Computational biology; Bioinformatics; Phenotype","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0008266711,0.0003415817,0.0007369426,0.0001603267,0.0001116417,0.00002651407,0.0001351232,0.0001431588,0.000007287617],"category_scores_gemma":[0.0002396287,0.0003016969,0.0001210694,0.0001763443,0.0003506825,0.00003109374,0.0001661732,0.0001391163,0.00001111158],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001485941,"about_ca_system_score_gemma":0.000212303,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006106325,"about_ca_topic_score_gemma":0.000006622157,"domain_scores_codex":[0.9979751,0.00004996955,0.0005126939,0.0005891877,0.0004073157,0.0004657545],"domain_scores_gemma":[0.9985657,0.00005888346,0.000142961,0.0005119872,0.0003062721,0.0004142042],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001306829,0.00003407641,0.000409686,0.0001273485,0.000223922,0.000103392,0.001691215,0.00003144683,0.9887078,0.000118363,0.003034956,0.005387045],"study_design_scores_gemma":[0.06581263,0.008584176,0.03481577,0.001618374,0.01016478,0.00775349,0.01995227,0.005882348,0.3994471,0.0069426,0.4352622,0.003764202],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8211614,0.1007387,0.07410832,0.001782531,0.0006658545,0.0009830993,0.0001075353,0.00006193663,0.0003905816],"genre_scores_gemma":[0.9859729,0.002094383,0.008190529,0.001663558,0.00061977,0.0001177341,0.0001784221,0.0000945405,0.0010681],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5892607,"threshold_uncertainty_score":0.9999435,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04507702410943323,"score_gpt":0.2810728058560523,"score_spread":0.2359957817466191,"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."}}