{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003626649,0.0006073812,0.0003142312,0.001247162,0.000325082,0.0005114019,0.0002303973,0.0006743184,0.001915429],"category_scores_gemma":[0.00112211,0.0001240614,0.00052118,0.0007121551,0.0002767752,0.0002556369,0.000396372,0.0003415149,0.0003596711],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001448672,"about_ca_system_score_gemma":0.0001352319,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005450623,"about_ca_topic_score_gemma":0.001078368,"domain_scores_codex":[0.9997323,0.00003893111,0.00004529614,0.00008091955,0.0000724351,0.00003004438],"domain_scores_gemma":[0.9997217,0.0001256879,0.00007596303,0.00002341244,0.00002488836,0.00002840787],"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":[0.0006734778,0.0001763181,0.3500735,0.0004089874,0.0006250267,0.1274206,0.0008688802,0.003242005,0.4323027,0.001778806,0.002654464,0.07977536],"study_design_scores_gemma":[0.00007077822,0.0002112884,0.6742245,0.0003082489,0.0006078254,0.2130277,0.0005413555,0.01124619,0.08201774,0.002868327,0.01480568,0.0000704514],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9809524,0.001815324,0.01237214,0.000383236,0.00006664336,0.00007019861,0.001789211,0.0001647197,0.002386067],"genre_scores_gemma":[0.9834924,0.001309222,0.01241513,0.0002590001,0.00005004457,0.00003314221,0.001536864,0.00004501261,0.0008591779],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001915429,"threshold_uncertainty_score":0.006407738,"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."}}