{"id":"W3120012537","doi":"10.3390/jpm11010046","title":"A Genotype-Phenotype Correlation Study of Exon Skip-Equivalent In-Frame Deletions and Exon Skip-Amenable Out-of-Frame Deletions across the DMD Gene to Simulate the Effects of Exon-Skipping Therapies: A Meta-Analysis","year":2021,"lang":"en","type":"article","venue":"Journal of Personalized Medicine","topic":"Muscle Physiology and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Muscular Dystrophy Canada; University of Alberta","funders":"University of Alberta; Canadian Institutes of Health Research; Women and Children's Health Research Institute; University of Dhaka; Children's Health Research Institute","keywords":"Exon; Exon skipping; Genetics; Duchenne muscular dystrophy; Exon shuffling; Dystrophin; Exon trapping; Biology; Phenotype; Frameshift mutation; Gene; Tandem exon duplication; 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":[0.001078369,0.0001992756,0.000918753,0.0001353769,0.0001328336,0.000008356677,0.0002349863,0.0001259153,0.0001028811],"category_scores_gemma":[0.0007999898,0.0001150005,0.0004293882,0.0005240348,0.0002758197,0.00001136046,0.0001035402,0.0002513529,4.293799e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002037552,"about_ca_system_score_gemma":0.0001071296,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001483401,"about_ca_topic_score_gemma":0.000325521,"domain_scores_codex":[0.9978573,0.0005161024,0.0007770821,0.0002536167,0.0003728154,0.000223023],"domain_scores_gemma":[0.9978412,0.0004529029,0.0006727846,0.0004127115,0.0005382443,0.000082168],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001216428,0.0009865056,0.003334431,0.0001810556,0.02735055,0.00001620266,0.0343703,0.01689773,0.9146171,0.00009575505,0.0001791413,0.0007547615],"study_design_scores_gemma":[0.05578027,0.03717851,0.3081858,0.001155501,0.2282262,0.0001821128,0.239952,0.007289918,0.1025599,0.004577858,0.01255836,0.002353596],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9713566,0.01930729,0.007249665,0.001469149,0.0001558265,0.0004212691,0.0000115518,0.000001935749,0.00002676686],"genre_scores_gemma":[0.9976144,0.001240187,0.0003364149,0.0005272496,0.00010035,0.00002277097,0.00001747278,0.00001436887,0.0001267156],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8120573,"threshold_uncertainty_score":0.4689582,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03526164898285097,"score_gpt":0.3353654140272593,"score_spread":0.3001037650444083,"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."}}