{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000199748,0.0004434637,0.001346627,0.0001680672,0.0002068587,0.00005509964,0.0009203983,0.0001131372,0.000007034871],"category_scores_gemma":[0.0001044091,0.0003057134,0.0009056174,0.0002824634,0.0004982893,0.000002032451,0.0002093896,0.0002462973,0.000002477917],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000338009,"about_ca_system_score_gemma":0.0006908411,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002063467,"about_ca_topic_score_gemma":0.0000022968,"domain_scores_codex":[0.9978666,0.0003110595,0.0009116221,0.0003196351,0.0002561633,0.0003349659],"domain_scores_gemma":[0.9971907,0.000134611,0.001609144,0.0004885941,0.0004457419,0.0001312711],"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":[0.0005646839,0.0001728985,0.0001543886,0.004461435,0.001836336,0.00002661034,0.00009985765,0.00003077541,0.002007734,0.00005092478,0.02770599,0.9628884],"study_design_scores_gemma":[0.0003848098,0.001817398,0.0002273725,0.00169476,0.001347294,0.0001121482,0.0001227847,0.000001065792,0.0001817718,0.0001654013,0.9935297,0.0004155233],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.010351,0.9882274,0.0003974411,0.0000525926,0.0001982185,0.0005481478,0.00008987786,0.000005265344,0.0001300595],"genre_scores_gemma":[0.0004900566,0.9961691,0.001627874,0.0002123254,0.0005896672,0.0000364462,0.0002610622,0.00005995875,0.0005534451],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9658237,"threshold_uncertainty_score":0.9999395,"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."}}