{"id":"W4388994084","doi":"10.1093/rheumatology/kead628","title":"Genetic testing of Behçet’s disease using next-generation sequencing to identify monogenic mimics and HLA-B*51","year":2023,"lang":"en","type":"article","venue":"Lara D. Veeken","topic":"Ocular Diseases and Behçet’s Syndrome","field":"Medicine","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Infection and Immunity","funders":"NIHR Great Ormond Street Hospital Biomedical Research Centre; Versus Arthritis; University College London Hospitals NHS Foundation Trust; Great Ormond Street Hospital Charity; Niilo Helanderin Säätiö; Action Medical Research; Great Ormond Street Institute of Child Health; National Institute for Health and Care Research; NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research; National Institute on Handicapped Research","keywords":"Medicine; Behcet's disease; HLA-B; DNA sequencing; Genetics; Human leukocyte antigen; Computational biology; Immunology; Disease; Gene; Antigen; Internal medicine; Biology","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0005551491,0.0003994249,0.0002305667,0.0009917448,0.000245427,0.0003837576,0.0001862805,0.00039699,0.001984041],"category_scores_gemma":[0.001325395,0.0001236558,0.0002356534,0.0004052691,0.0001885778,0.0001919908,0.0003078778,0.000242536,0.0003496229],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001899482,"about_ca_system_score_gemma":0.0001956627,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001780525,"about_ca_topic_score_gemma":0.002013461,"domain_scores_codex":[0.9996876,0.00007796912,0.00004309248,0.00007257243,0.00008066753,0.00003812143],"domain_scores_gemma":[0.9996161,0.0001690073,0.00007612107,0.0000170915,0.00006139075,0.00006024671],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001093162,0.0001228107,0.8188959,0.0001862106,0.0001732596,0.02492521,0.0008890259,0.001334499,0.105119,0.0004077256,0.001843386,0.04500983],"study_design_scores_gemma":[0.0001617016,0.00107349,0.8853102,0.0002670161,0.0001876224,0.06810249,0.0007076997,0.009868415,0.02712553,0.0009058547,0.006253254,0.00003674352],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953307,0.0006858918,0.001641938,0.0001844801,0.00001463019,0.00004988529,0.0004704494,0.00003227441,0.001589802],"genre_scores_gemma":[0.9967363,0.0002572989,0.002193729,0.0001431957,0.00001191045,0.00001338046,0.0003646062,0.000004763618,0.0002747886],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001984041,"threshold_uncertainty_score":0.006637216,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1326779111447148,"score_gpt":0.3284307101236298,"score_spread":0.1957527989789151,"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."}}