{"id":"W4293491746","doi":"10.1136/bjo-2022-321903","title":"Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes","year":2022,"lang":"en","type":"review","venue":"British Journal of Ophthalmology","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Moorfields Eye Hospital NHS Foundation Trust; Retina UK; Foundation Fighting Blindness; National Institute for Health and Care Research; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; Moorfields Eye Charity; Wellcome Trust","keywords":"Retinitis pigmentosa; Medicine; Genetics; Genetic enhancement; Gene; Retinal; Ophthalmology; Disease; Bioinformatics; Biology; Pathology","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":[0.001786253,0.0003829981,0.0007817441,0.0005508366,0.0002524126,0.001030281,0.0004647109,0.0008077414,0.00210065],"category_scores_gemma":[0.001243925,0.0001161588,0.0005230712,0.0003325462,0.0005814967,0.0008849736,0.0007302055,0.001906427,0.000670834],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007015514,"about_ca_system_score_gemma":0.0005646481,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006997949,"about_ca_topic_score_gemma":0.001739401,"domain_scores_codex":[0.9992354,0.0002741778,0.00007794262,0.0001067559,0.0002439316,0.00006178819],"domain_scores_gemma":[0.9995128,0.0002161481,0.00007906833,0.00003233488,0.0001027965,0.00005672545],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001049929,0.0004093566,0.001694658,0.003702409,0.0002374673,0.001083599,0.0002485494,0.001019121,0.02901366,0.01364383,0.01732201,0.9305753],"study_design_scores_gemma":[0.001624754,0.007219202,0.01682108,0.01082351,0.0009228764,0.01516864,0.0008171098,0.003245995,0.02709887,0.02827757,0.8877972,0.0001830038],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.03723085,0.9097134,0.01183966,0.0304066,0.001199524,0.0001613241,0.0002623676,0.0001856334,0.009000606],"genre_scores_gemma":[0.1854796,0.7729502,0.02100608,0.01135365,0.001771565,0.0004338146,0.000688819,0.0001424547,0.006173813],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00210065,"threshold_uncertainty_score":0.009446681,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08896702449102044,"score_gpt":0.2991927750090674,"score_spread":0.2102257505180469,"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."}}