{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.01114391,0.001504311,0.005172653,0.002644884,0.0005586322,0.001783688,0.001032615,0.001245827,0.001668173],"category_scores_gemma":[0.0108027,0.0008158743,0.01438672,0.003941805,0.000402991,0.0008889536,0.0008694407,0.00109604,0.0002218335],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005640158,"about_ca_system_score_gemma":0.0006766727,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001922638,"about_ca_topic_score_gemma":0.003218679,"domain_scores_codex":[0.9925544,0.003549241,0.00112697,0.001947493,0.0006192753,0.0002026427],"domain_scores_gemma":[0.9869292,0.009251243,0.001456929,0.001263862,0.0007696472,0.0003291935],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"meta_analysis","study_design_gemma":"meta_analysis","study_design_scores_codex":[0.01050009,0.00006664576,0.283019,0.00631496,0.6883903,0.0004453351,0.0001180283,0.0009004261,0.001747533,0.0001314541,0.000504553,0.007861685],"study_design_scores_gemma":[0.0009595373,0.0009614599,0.1271067,0.0004918996,0.8659407,0.0005406635,0.0001286456,0.001712253,0.0005304403,0.0002825138,0.001302452,0.00004268994],"study_design_candidate":"meta_analysis","study_design_consensus":"meta_analysis","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7205082,0.268387,0.005237269,0.0003057352,0.0003517786,0.0002901357,0.003828584,0.000114152,0.0009769708],"genre_scores_gemma":[0.9876703,0.009189012,0.001214194,0.0001893785,0.00006879705,0.00012263,0.001328995,0.00004077848,0.0001759314],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01114391,"threshold_uncertainty_score":0.05893534,"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."}}