{"id":"W4317655863","doi":"10.1101/2023.01.20.524978","title":"Base editing as a genetic treatment for spinal muscular atrophy","year":2023,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Neurogenetic and Muscular Disorders Research","field":"Medicine","cited_by":19,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; University of Ottawa","funders":"Canadian Institutes of Health Research; National Institutes of Health; Muscular Dystrophy Canada; Charles A. King Trust; St. Jude Children's Research Hospital; Massachusetts General Hospital; Muscular Dystrophy Association","keywords":"SMN1; Spinal muscular atrophy; Exon; SMA*; Genome editing; Biology; Mutation; Genetics; Gene; Translation (biology); CRISPR; Messenger RNA; 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":[0.0002522825,0.0004049103,0.0003016936,0.000308701,0.0001896914,0.0003218214,0.0003234624,0.0005346513,0.001372018],"category_scores_gemma":[0.0002248705,0.0001293845,0.0003075293,0.0001260877,0.0002125606,0.0002106712,0.0002306204,0.0006557435,0.0003501295],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002125651,"about_ca_system_score_gemma":0.0001155715,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003325586,"about_ca_topic_score_gemma":0.0005337617,"domain_scores_codex":[0.9997466,0.00004870953,0.00002074703,0.0000645805,0.00009470872,0.00002462302],"domain_scores_gemma":[0.9998724,0.00003233775,0.00004263376,0.00001283023,0.00001777094,0.00002197744],"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":[0.0001015303,0.00006096552,0.0001753402,0.00008739597,0.00002236892,0.0001514333,0.00001127721,0.0004208655,0.9912155,0.0002575454,0.0001130974,0.007382783],"study_design_scores_gemma":[0.00002676189,0.0009406041,0.0009727469,0.00001572494,0.00004361496,0.001287558,0.000009380778,0.001558497,0.9874483,0.000141925,0.007538189,0.0000167875],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9259923,0.01695236,0.04829598,0.0003932289,0.0003582989,0.0002175329,0.0005099725,0.0007195115,0.006560928],"genre_scores_gemma":[0.9721933,0.003509802,0.02074573,0.0001639566,0.0000417057,0.00005529857,0.0002893914,0.00007250596,0.002928338],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001372018,"threshold_uncertainty_score":0.004589856,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04280534822212803,"score_gpt":0.3003664318143692,"score_spread":0.2575610835922412,"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."}}