{"id":"W4390106146","doi":"10.3390/cells13010031","title":"Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy","year":2023,"lang":"en","type":"article","venue":"Cells","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; RYR-1 Foundation","keywords":"RYR1; Mutation; Point mutation; Gene; Genetics; Myopathy; Genome editing; Biology; Ryanodine receptor; Gene mutation; CRISPR; Receptor","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":[0.0002638092,0.0000474531,0.00005107773,0.00003601972,0.00002199752,0.000006798764,0.00006664838,0.00004684901,0.000002039799],"category_scores_gemma":[0.00006432048,0.00004184978,0.00003056789,0.0001317312,0.00001076952,0.000001317091,0.00001530381,0.00002814925,0.000002225347],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004052421,"about_ca_system_score_gemma":0.000018794,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001354377,"about_ca_topic_score_gemma":0.00001290869,"domain_scores_codex":[0.9996092,0.00002224065,0.0001058318,0.0001093279,0.0000504602,0.000102908],"domain_scores_gemma":[0.999792,0.00003608099,0.00003177376,0.0001031778,0.00002608161,0.00001083409],"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":[0.00002328885,0.00001066439,0.0001532133,0.00001291473,0.000003483319,8.239873e-7,0.000193239,0.001371151,0.9895911,0.00000149752,0.006941881,0.001696789],"study_design_scores_gemma":[0.0002019889,0.0001018587,0.0006392681,0.000007171959,0.000004752089,0.00000296421,0.0004701387,0.002893384,0.9927307,0.00001676652,0.002885686,0.00004535853],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9767473,0.0002357362,0.02225795,0.00006370935,0.0003595713,0.0001941544,0.00001708877,0.00000823514,0.0001162292],"genre_scores_gemma":[0.9990498,0.00004306534,0.0002685734,0.0000276429,0.0001301063,0.00003638208,0.0001199752,0.000008718835,0.0003157626],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02230245,"threshold_uncertainty_score":0.1706585,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006347292387806518,"score_gpt":0.286491673056758,"score_spread":0.2801443806689515,"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."}}