{"id":"W4400138092","doi":"10.1002/art.42938","title":"Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis","year":2024,"lang":"en","type":"article","venue":"Arthritis & Rheumatology","topic":"Autoimmune and Inflammatory Disorders Research","field":"Medicine","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"National Heart, Lung, and Blood Institute; U.S. Department of Health and Human Services; National Institutes of Health; Medical Research Council; Tobacco-Related Disease Research Program; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Marcus Foundation","keywords":"Hemophagocytic lymphohistiocytosis; Macrophage activation syndrome; Juvenile; Arthritis; Immunology; Gene; Medicine; Hemophagocytosis; Genetics; Biology; Internal medicine; Disease; Bone marrow","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":[0.0005272417,0.0003010159,0.0004027994,0.001137813,0.0003466625,0.0004881323,0.0002585733,0.0003965627,0.001810205],"category_scores_gemma":[0.001511816,0.0001516027,0.000331351,0.0008561678,0.0004624662,0.000197141,0.0003615206,0.0002057171,0.0001805687],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001130408,"about_ca_system_score_gemma":0.0001318673,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007939303,"about_ca_topic_score_gemma":0.001218165,"domain_scores_codex":[0.9992152,0.000154093,0.00009491836,0.0003261722,0.0001313516,0.00007815751],"domain_scores_gemma":[0.9988427,0.0003792284,0.0004421335,0.0001048988,0.0001123447,0.000118661],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006686759,0.00002930467,0.9565827,0.00007040936,0.0002507046,0.001528261,0.0001797421,0.0001779393,0.03422524,0.00006090878,0.00009309933,0.006133167],"study_design_scores_gemma":[0.00001657843,0.0001401351,0.9936895,0.00001050034,0.0001463681,0.003872633,0.0001112408,0.0003486957,0.00131524,0.0000568196,0.000286961,0.000005327499],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991522,0.0003547526,0.0002350094,0.00001298537,0.000002490711,0.000002140899,0.0001044248,0.000006675706,0.0001293343],"genre_scores_gemma":[0.9996152,0.00005334051,0.0001645035,0.000007682906,0.000005949727,0.000002065735,0.00009229106,0.000002966601,0.0000559953],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001810205,"threshold_uncertainty_score":0.006055713,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01177595229082675,"score_gpt":0.2640562892736935,"score_spread":0.2522803369828667,"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."}}