{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003652045,0.0002691604,0.0003405976,0.000137963,0.00005163009,0.0000526004,0.0001390373,0.0004682082,0.00000155945],"category_scores_gemma":[0.0001839448,0.0002502989,0.00006062477,0.0001116154,0.0001422539,0.000002169177,0.0006684412,0.0002960945,2.174258e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002515881,"about_ca_system_score_gemma":0.00008748621,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001049728,"about_ca_topic_score_gemma":0.0002532227,"domain_scores_codex":[0.9985567,0.0001310316,0.0003009642,0.0006554172,0.00009044792,0.0002654188],"domain_scores_gemma":[0.9992853,0.00002070166,0.00012562,0.000427012,0.00006014243,0.00008117426],"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":[0.0001575184,0.00009705467,0.09432414,0.000219372,0.0001907974,0.0002202634,0.0001245525,0.000004384583,0.8965783,0.0000535497,0.0002189747,0.007811076],"study_design_scores_gemma":[0.001319908,0.0002416279,0.09871508,0.001017582,0.0002707386,0.0002122929,0.0001193471,0.0003934265,0.8834258,0.001457218,0.01178682,0.001040098],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966468,0.001299489,0.000934487,0.0003260578,0.00007036358,0.0002098219,0.0000761016,0.00002442033,0.0004124196],"genre_scores_gemma":[0.9876286,0.006030662,0.005302796,0.0002563305,0.00008034673,0.00002364587,0.0001133892,0.00001651607,0.0005476904],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01315246,"threshold_uncertainty_score":0.9999949,"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."}}