{"id":"W2891229107","doi":"10.1016/j.nmd.2018.06.425","title":"NEXT GENERATION SEQUENCING AND EXPERIMENTAL MYOLOGY","year":2018,"lang":"en","type":"article","venue":"Neuromuscular Disorders","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Western Ontario","funders":"","keywords":"Nonsense mutation; Phenotype; Genetics; Nonsense; Gene; Nonsense-mediated decay; Biology; Mutation; Computational biology; Bioinformatics; Missense mutation; RNA splicing","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":[0.003491407,0.0004331739,0.0006191593,0.0007486216,0.0004255845,0.0009808532,0.0006296323,0.001372264,0.003781528],"category_scores_gemma":[0.003148035,0.0003215674,0.0005337697,0.0006839471,0.001183542,0.001084006,0.001225498,0.001851416,0.0009898405],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005723038,"about_ca_system_score_gemma":0.001123615,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009199554,"about_ca_topic_score_gemma":0.000974722,"domain_scores_codex":[0.9987928,0.0005842241,0.00005762899,0.0002406595,0.000236385,0.00008832911],"domain_scores_gemma":[0.9980463,0.001094076,0.0001293594,0.0004188748,0.0001698585,0.0001414897],"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":[0.001215034,0.0002819065,0.01083375,0.000958527,0.000368731,0.0006665767,0.0003205189,0.005506702,0.5071225,0.1298826,0.0180598,0.3247833],"study_design_scores_gemma":[0.0003313811,0.001054998,0.03242233,0.0005405635,0.0003149185,0.004555535,0.0003337488,0.04082842,0.3087534,0.2272888,0.383396,0.0001800532],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"methods","genre_scores_codex":[0.16794,0.0594022,0.698054,0.01953821,0.004684117,0.0003821082,0.01040718,0.00203118,0.03756107],"genre_scores_gemma":[0.5182196,0.03377467,0.4051233,0.01041632,0.002351261,0.001059012,0.008830441,0.0005797184,0.01964564],"genre_candidate":"methods","genre_consensus":"methods","teacher_disagreement_score":0.003781528,"threshold_uncertainty_score":0.01846451,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02157421059475144,"score_gpt":0.244662481534152,"score_spread":0.2230882709394005,"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."}}