{"id":"W4410086068","doi":"10.21203/rs.3.rs-5849564/v2","title":"RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals","year":2025,"lang":"en","type":"preprint","venue":"Research Square","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta; University of British Columbia","funders":"National Eye Institute; Medical Research Council; Horizon 2020 Framework Programme; Institute of Genetics; Bijzonder Onderzoeksfonds UGent; National Institutes of Health; Universiteit Gent; Moorfields Eye Hospital NHS Foundation Trust; Vlaamse regering; Radboud Universiteit; Fonds Wetenschappelijk Onderzoek; Trinity College Dublin; Radboud Universitair Medisch Centrum; Université de Lille; H2020 Marie Skłodowska-Curie Actions; NHS Greater Glasgow and Clyde","keywords":"RPE65; Maculopathy; Medicine; Biology; Psychology; Ophthalmology; Demography; Endocrinology; Retinal; Sociology; Retinopathy","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001633844,0.0004708905,0.0005119708,0.0007244939,0.0001737078,0.0001684454,0.000882343,0.0008528598,0.00006862809],"category_scores_gemma":[0.001809882,0.0004404748,0.0002189696,0.0006484799,0.0001957856,0.000005365544,0.002651813,0.00117816,0.00003714631],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001288891,"about_ca_system_score_gemma":0.001753323,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007532362,"about_ca_topic_score_gemma":0.001066062,"domain_scores_codex":[0.9958045,0.000583493,0.000542354,0.001215627,0.0008533048,0.001000644],"domain_scores_gemma":[0.9979771,0.0001297784,0.000131111,0.0009251531,0.0006393113,0.0001975287],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004591091,0.006787359,0.5091449,0.01617686,0.002224032,0.001643119,0.005610941,0.001040877,0.2840298,0.003341673,0.1505875,0.01482184],"study_design_scores_gemma":[0.01131468,0.001773526,0.7405239,0.009432425,0.0001544355,0.0001118433,0.003503839,0.0006314432,0.1322489,0.00425001,0.09200119,0.004053774],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9868175,0.002817268,0.0005095417,0.0009745507,0.0003690642,0.002306771,0.00105554,0.00003589669,0.005113883],"genre_scores_gemma":[0.9870674,0.003859346,0.001199856,0.0001555941,0.0001631348,0.0008397829,0.00306478,0.00005320966,0.003596878],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.231379,"threshold_uncertainty_score":0.9998047,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02786799495156069,"score_gpt":0.3620684646216303,"score_spread":0.3342004696700696,"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."}}