{"id":"W4414225018","doi":"10.1016/j.ajhg.2025.08.017","title":"RetiGene, a comprehensive gene atlas for inherited retinal diseases","year":2025,"lang":"en","type":"review","venue":"The American Journal of Human Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre; McGill University Health Centre","funders":"National Eye Institute; European Regional Development Fund; Instituto de Salud Carlos III; HORIZON EUROPE Framework Programme; Fondation de l'Hôpital de Montréal pour enfants; Centro de Investigación Biomédica en Red de Cáncer; Generalitat Valenciana; Fonds de Recherche du Québec - Santé; Foundation Fighting Blindness; Vlaamse regering; Centro de Investigación Biomédica en Red en Bioingeniería, Biomateriales y Nanomedicina; Leids Universitair Medisch Centrum; Centro de Investigación Biomédica en Red Enfermedades Cardiovasculares; Universiteit Gent; Canadian Institutes of Health Research; Fonds Wetenschappelijk Onderzoek; Federación Española de Enfermedades Raras; National Institutes of Health; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Bijzonder Onderzoeksfonds UGent; Fight for Sight UK; European Commission; Fondazione Telethon; Retina UK; Ministerio de Sanidad, Consumo y Bienestar Social; National Science Foundation; Children's Hospital Foundation","keywords":"Gene; Mendelian inheritance; OMIM : Online Mendelian Inheritance in Man; Candidate gene; Gene mapping; Function (biology); Genetic data; Genetic testing; Inheritance (genetic algorithm)","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":[0.0008805211,0.000903808,0.001203205,0.006528419,0.0002719785,0.001137402,0.00140781,0.0008264162,0.00693584],"category_scores_gemma":[0.001167196,0.0002758129,0.0006589143,0.00552717,0.0003033876,0.0007125597,0.0009745223,0.001298269,0.004742519],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008579914,"about_ca_system_score_gemma":0.002525616,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003605364,"about_ca_topic_score_gemma":0.005385426,"domain_scores_codex":[0.9996349,0.00006642385,0.00005384392,0.00006080334,0.0001507303,0.00003333853],"domain_scores_gemma":[0.9993228,0.0002175089,0.0001067752,0.00004906598,0.0002138347,0.00009007925],"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":[0.0001356936,0.00002868822,0.001290889,0.01238857,0.0003003566,0.0005003467,0.0001385911,0.0007350825,0.006464503,0.01120991,0.2018217,0.7649857],"study_design_scores_gemma":[0.00001260458,0.00001440508,0.001871117,0.0009294777,0.0001228177,0.0008252318,0.00002664597,0.0001098342,0.0006963479,0.001549223,0.9938267,0.00001554204],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.002566125,0.920103,0.01316854,0.002304657,0.00151793,0.0001518103,0.03737735,0.002337828,0.0204728],"genre_scores_gemma":[0.009751643,0.8815634,0.0245927,0.001695482,0.0006246291,0.0002910439,0.07190415,0.000323798,0.009253231],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.00693584,"threshold_uncertainty_score":0.02320266,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02711430062344191,"score_gpt":0.3401980876046383,"score_spread":0.3130837869811964,"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."}}