{"id":"W4389388944","doi":"10.1038/s41551-023-01132-z","title":"Optimization of base editors for the functional correction of SMN2 as a treatment for spinal muscular atrophy","year":2023,"lang":"en","type":"article","venue":"Nature Biomedical Engineering","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; University of Ottawa","funders":"National Institute on Deafness and Other Communication Disorders; National Heart, Lung, and Blood Institute; Canadian Institutes of Health Research; National Cancer Institute; National Institutes of Health; Muscular Dystrophy Canada; Charles A. King Trust; St. Jude Children's Research Hospital; National Institute of Neurological Disorders and Stroke; Massachusetts General Hospital; National Institute of Allergy and Infectious Diseases; Muscular Dystrophy Association","keywords":"SMN1; Spinal muscular atrophy; Exon; SMA*; Biology; Mutation; Point mutation; Motor neuron; Molecular biology; Genetics; Cancer research; Gene; Neuroscience; Spinal cord; Computer science","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":[0.0006200635,0.0005941825,0.0004353663,0.0003417261,0.0001912691,0.0004952968,0.0003971126,0.0005903724,0.001169667],"category_scores_gemma":[0.0006697234,0.0002310191,0.0003722787,0.0001769985,0.0001922114,0.0002411916,0.0002676285,0.0006691642,0.0004755346],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002624289,"about_ca_system_score_gemma":0.0001866209,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003189055,"about_ca_topic_score_gemma":0.0008082122,"domain_scores_codex":[0.99931,0.0001309308,0.0000621289,0.0001631112,0.0002860389,0.00004774327],"domain_scores_gemma":[0.9996449,0.00009007022,0.0001416907,0.00004413237,0.00004572684,0.0000334809],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00008614196,0.00005439007,0.0002080591,0.00007729916,0.00003429089,0.0001096745,0.00001869532,0.001434682,0.9877347,0.0001917716,0.0001377851,0.009912379],"study_design_scores_gemma":[0.00001693513,0.0003751533,0.0005044836,0.000009484337,0.00004858725,0.0003911413,0.000009457819,0.002357797,0.9907066,0.000064251,0.005501146,0.00001500252],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8914088,0.006808119,0.0937524,0.0002487218,0.0002931381,0.0004338197,0.0008354897,0.0009978339,0.005221589],"genre_scores_gemma":[0.9198323,0.002702413,0.07221203,0.0001428664,0.00004105858,0.0001566291,0.0008721034,0.0002559721,0.003784698],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001169667,"threshold_uncertainty_score":0.003912985,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01530269227728035,"score_gpt":0.2993428286397499,"score_spread":0.2840401363624696,"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."}}