{"id":"W4404539759","doi":"10.3390/genes15111489","title":"An Updated Analysis of Exon-Skipping Applicability for Duchenne Muscular Dystrophy Using the UMD-DMD Database","year":2024,"lang":"en","type":"review","venue":"Genes","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Muscular Dystrophy Canada; University of Alberta","funders":"Faculty of Medicine and Dentistry, University of Alberta; Canadian Institutes of Health Research; Muscular Dystrophy Canada; University of Alberta; Alberta Innovates - Health Solutions; Women and Children's Health Research Institute; Children's Health Research Institute; Alberta Innovates; Heart and Stroke Foundation of Canada; U.S. Department of Defense","keywords":"Duchenne muscular dystrophy; Exon skipping; Database; Exon; Muscular dystrophy; Computational biology; Medicine; Computer science; Bioinformatics; Genetics; Biology; Internal medicine; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003626575,0.0003372639,0.000956732,0.0001350595,0.0001154073,0.00002152455,0.0004724901,0.0003193385,0.00002384386],"category_scores_gemma":[0.0000283074,0.0002255969,0.0009934453,0.0005328578,0.0001727456,0.000003919094,0.0001861471,0.0001259052,0.000001820417],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001359956,"about_ca_system_score_gemma":0.0001639552,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006314545,"about_ca_topic_score_gemma":0.00004210173,"domain_scores_codex":[0.9982522,0.0001951868,0.0004622413,0.0007484512,0.00008632319,0.000255626],"domain_scores_gemma":[0.9983141,0.00002616654,0.000229762,0.001275345,0.00009538217,0.00005928767],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001999011,0.0004630726,0.00004522627,0.02153082,0.02192776,0.000004737565,0.00006969008,0.001865948,0.1600089,0.0003555074,0.00112041,0.792408],"study_design_scores_gemma":[0.0001504561,0.0001257809,0.00001172151,0.0002217524,0.01892601,0.000003434839,0.00007043002,0.001104595,0.001061236,0.00006779006,0.9778068,0.0004500057],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.01988454,0.9715393,0.006641547,0.000007400503,0.0001281562,0.0007316985,0.001042578,0.00001546413,0.000009305222],"genre_scores_gemma":[0.005857287,0.9794026,0.001076509,0.00004295302,0.0003073929,0.0002143827,0.0130253,0.00005351138,0.00002006689],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9766864,"threshold_uncertainty_score":0.9199573,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05127276431761647,"score_gpt":0.3795790093915544,"score_spread":0.3283062450739379,"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."}}