{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00003668628,0.0001040091,0.00006597417,0.00002523328,0.0001257135,0.00002998014,0.00007299757,0.00006452391,0.00002925163],"category_scores_gemma":[0.00002139221,0.0001039776,0.00004977287,0.00003243668,0.0001319209,0.000004229361,0.00007619133,0.00003089318,0.000009688851],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006199135,"about_ca_system_score_gemma":0.00003268334,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002583879,"about_ca_topic_score_gemma":0.00006678059,"domain_scores_codex":[0.9993625,0.00003928008,0.00008687987,0.0003040147,0.00005469969,0.0001526522],"domain_scores_gemma":[0.9996946,0.000002070406,0.00002624579,0.0001902798,0.00002407751,0.00006265302],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00001428816,0.00002336875,0.0006108936,0.000003003543,0.00001562483,0.000002355951,0.00006925887,0.00001847694,0.9971463,0.00006526702,0.0004955542,0.001535589],"study_design_scores_gemma":[0.002020705,0.0022274,0.009730855,0.000007791891,0.00006459585,0.0001294916,0.001065879,0.004001485,0.8582708,0.000268051,0.1213569,0.0008560143],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9969386,0.001696767,0.0003072255,0.0001005774,0.0002157396,0.0001051498,0.000003441886,0.00001042298,0.0006221084],"genre_scores_gemma":[0.9984616,0.0002249838,0.0001991266,0.0006655374,0.0002975352,0.0000122093,0.00006197221,0.00001912485,0.00005791475],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1388755,"threshold_uncertainty_score":0.4240085,"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."}}