{"id":"W4406132980","doi":"10.1101/2025.01.06.24317169","title":"De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa","year":2025,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Advanced biosensing and bioanalysis techniques","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; Hospital for Sick Children","funders":"European Regional Development Fund; Bijzonder Onderzoeksfonds UGent; Children's Hospital Foundation; National Institutes of Health; Fondation de l'Hôpital de Montréal pour enfants; Medical Research Charities Group; Stichting tot Verbetering van het Lot der Blinden; Instituto de Salud Carlos III; Cancer Research UK; Landelijke Stichting voor Blinden en Slechtzienden; Retina UK; Radboud Universitair Medisch Centrum; University of California, San Francisco; Universiteit Gent; Fonds de Recherche du Québec - Santé; Oogfonds; Generalitat Valenciana; Algemene Nederlandse Vereniging ter voorkoming van Blindheid; Ministero della Salute; Canadian Institutes of Health Research; Fonds Wetenschappelijk Onderzoek; Ministerstvo Školství, Mládeže a Tělovýchovy; South African Medical Research Council; University of California, San Diego; Ministerio de Ciencia e Innovación; Ministerstvo Zdravotnictví Ceské Republiky; Fight for Sight UK; European Commission; Medical Research Council; Stichting Blindenhulp; Department of Health and Social Care; Wellcome Trust; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; National Eye Institute; National Institute for Health and Care Research; Vlaamse regering; Foundation Fighting Blindness; Moorfields Eye Hospital NHS Foundation Trust; Deutsche Forschungsgemeinschaft; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Retina Australia; National Science Foundation; Science Foundation Ireland; New York Eye and Ear Infirmary of Mount Sinai; Velux Stiftung; Japan Agency for Medical Research and Development; BrightFocus Foundation; Stichting Blinden-Penning; Research to Prevent Blindness","keywords":"Retinitis pigmentosa; Genetics; Biology; Gene","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":[0.0001926411,0.000885983,0.0003633491,0.000991736,0.0005054539,0.0002117656,0.0002622401,0.0004926339,0.002168586],"category_scores_gemma":[0.0008324502,0.0002742954,0.000317932,0.0004799437,0.0004566886,0.0001104788,0.0004008336,0.0003088326,0.0002816597],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002096183,"about_ca_system_score_gemma":0.0001328808,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001964076,"about_ca_topic_score_gemma":0.001987892,"domain_scores_codex":[0.999479,0.00006977027,0.00005902726,0.0001786562,0.000141163,0.00007244665],"domain_scores_gemma":[0.9995754,0.000117228,0.0001684233,0.00003428335,0.00002821446,0.00007638821],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00142627,0.0002472883,0.5981845,0.0001251997,0.0004756771,0.06265668,0.0007576257,0.0004425001,0.3167451,0.0005966533,0.0005959672,0.01774642],"study_design_scores_gemma":[0.00008229689,0.0006907168,0.7807246,0.00004656791,0.0003956464,0.1712242,0.0004270423,0.001006445,0.04224888,0.0004246513,0.002693605,0.00003540024],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987565,0.0002888578,0.0003328636,0.00002165766,0.000008059496,0.000005784711,0.0001349887,0.00002279982,0.0004283442],"genre_scores_gemma":[0.999163,0.00008425028,0.0003061952,0.00002040502,0.00001023626,0.000003579614,0.00009848484,0.000007036102,0.0003066827],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002168586,"threshold_uncertainty_score":0.00725466,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01415497797771042,"score_gpt":0.2914146093807075,"score_spread":0.2772596314029971,"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."}}