{"id":"W4214512010","doi":"10.3390/genes13020257","title":"Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot","year":2022,"lang":"en","type":"review","venue":"Genes","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":31,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Duchenne muscular dystrophy; Dystrophin; Antisense therapy; Exon skipping; Muscular dystrophy; Genetic enhancement; Neuromuscular disease; Medicine; Exon; Gene; Disease; Bioinformatics; Genetics; Biology; Internal medicine; Alternative splicing; Oligonucleotide","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":[0.0002675065,0.0006633748,0.0009032896,0.001702643,0.0001644194,0.0005331765,0.0005373476,0.0006938603,0.004199521],"category_scores_gemma":[0.0003007204,0.0001655329,0.0004200003,0.001084717,0.000187085,0.0006585007,0.0004228401,0.001268285,0.001984101],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00026914,"about_ca_system_score_gemma":0.0003704585,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004019691,"about_ca_topic_score_gemma":0.001026462,"domain_scores_codex":[0.9999095,0.00001524467,0.00001277732,0.00001591019,0.00003758578,0.000008956758],"domain_scores_gemma":[0.9999089,0.00004659684,0.00001397585,0.000002297204,0.00001847403,0.000009697786],"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":[0.00008370169,0.00009710187,0.00009005549,0.01268546,0.00007527799,0.0002713873,0.00004923709,0.0003056123,0.004286536,0.00209262,0.0189453,0.9610177],"study_design_scores_gemma":[0.00003442426,0.0001882112,0.000629283,0.002868131,0.0001417125,0.002161904,0.00004262593,0.00009268589,0.001117105,0.001118921,0.9915877,0.00001716128],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002634892,0.9977556,0.0002001889,0.0001458061,0.000173509,0.000008012599,0.00002836582,0.00001117868,0.001413938],"genre_scores_gemma":[0.0007743563,0.9977557,0.0002337078,0.0001657521,0.00008746993,0.00001122853,0.00005362209,0.000002395233,0.0009157683],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.004199521,"threshold_uncertainty_score":0.01404881,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05214128828529335,"score_gpt":0.3296273351999742,"score_spread":0.2774860469146809,"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."}}