{"id":"W4406807090","doi":"10.3390/cells14030177","title":"Analysis of Exon Skipping Applicability for Dysferlinopathies","year":2025,"lang":"en","type":"review","venue":"Cells","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"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":"Exon skipping; Exon; Computational biology; Bioinformatics; Population; Genetics; Medicine; Biology; Gene; Alternative splicing","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":[0.0001714514,0.0001977552,0.001051721,0.0001323271,0.00003714989,0.000003877535,0.0002297491,0.0003796042,0.00001533976],"category_scores_gemma":[0.00007083712,0.0001736769,0.0009643157,0.0003000321,0.00008617045,5.880011e-7,0.0000947574,0.00007120887,0.000001641473],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006723562,"about_ca_system_score_gemma":0.000140585,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005547274,"about_ca_topic_score_gemma":0.00001052749,"domain_scores_codex":[0.9989546,0.00007786961,0.0003550064,0.0004252831,0.00003808539,0.0001491393],"domain_scores_gemma":[0.999101,0.000109879,0.0001846795,0.0005196452,0.00005769859,0.00002713897],"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":[0.00004925783,0.0001484534,0.00001824766,0.03908664,0.002933649,1.758464e-7,0.00001337296,0.00006044266,0.003237511,0.000132156,0.0009524217,0.9533677],"study_design_scores_gemma":[0.0001029199,0.0000777785,0.0000117406,0.0004683688,0.00444772,8.501975e-8,0.00001037417,0.00001088013,0.001843735,0.00006456715,0.9927516,0.0002102181],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002436661,0.995702,0.002492571,0.00000210644,0.00009615251,0.0005658498,0.0002307565,0.00000536308,0.000661583],"genre_scores_gemma":[0.0005921816,0.9974455,0.0001465473,0.00002922924,0.00005251509,0.0001972549,0.001155396,0.00001069667,0.0003706299],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9917992,"threshold_uncertainty_score":0.708234,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01981748400193595,"score_gpt":0.3316832710272484,"score_spread":0.3118657870253125,"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."}}