{"id":"W3121564779","doi":"10.1016/j.ajhg.2021.01.006","title":"Allele-specific editing ameliorates dominant retinitis pigmentosa in a transgenic mouse model","year":2021,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Horizon 2020; UCL Institute of Ophthalmology, University College London; Fondazione Roma; Università degli Studi di Trento; European Research Council; Wellcome Trust; Foundation Fighting Blindness","keywords":"Retinitis pigmentosa; Biology; Missense mutation; Genetics; Allele; Rhodopsin; CRISPR; Cas9; Retinal degeneration; Transgene; Genome editing; Genetically modified mouse; Gene; Retinal; Mutation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003815895,0.0008370537,0.0004753325,0.000849724,0.0002864854,0.0004656065,0.0005512686,0.001095349,0.002119657],"category_scores_gemma":[0.0002507114,0.0003221167,0.0005846156,0.0002163181,0.0004063817,0.0002999545,0.0002946142,0.001387001,0.0006318773],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003307169,"about_ca_system_score_gemma":0.0003154282,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009437024,"about_ca_topic_score_gemma":0.001316453,"domain_scores_codex":[0.9995289,0.00006244604,0.00006186914,0.0001320788,0.0001516135,0.00006314622],"domain_scores_gemma":[0.9996693,0.00004430559,0.0001241355,0.00005036844,0.00003082551,0.00008102094],"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":[0.0001035917,0.00009136052,0.00007329795,0.00004533785,0.00001507002,0.0002327377,0.00002676352,0.0001581874,0.9965872,0.0004725766,0.000177195,0.002016627],"study_design_scores_gemma":[0.0001265339,0.001215466,0.002013622,0.00004920831,0.000107704,0.001945385,0.00005806566,0.003639922,0.9754376,0.0004195602,0.01495851,0.00002852041],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9346544,0.004272596,0.04367332,0.001041479,0.0005916896,0.0003878486,0.002670656,0.003191359,0.009516772],"genre_scores_gemma":[0.9612648,0.003234949,0.01636254,0.0002739239,0.00006857287,0.0002993903,0.001423977,0.0002849576,0.01678703],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002119657,"threshold_uncertainty_score":0.007090986,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01655976203133233,"score_gpt":0.2612326676128748,"score_spread":0.2446729055815424,"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."}}