{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006700948,0.0002296691,0.00149058,0.0005972057,0.00005003594,0.00001435122,0.0001838109,0.0002457835,0.0003473811],"category_scores_gemma":[0.0002343079,0.0002343965,0.0001953374,0.0006052344,0.00027365,0.0001415439,0.0001127433,0.0002568527,0.0001292468],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001718477,"about_ca_system_score_gemma":0.001026473,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006709906,"about_ca_topic_score_gemma":0.0001293744,"domain_scores_codex":[0.9968674,0.0002071915,0.001613689,0.0004432769,0.0003888655,0.0004795344],"domain_scores_gemma":[0.9989113,0.0001543052,0.0002031482,0.0004757339,0.0001553721,0.000100099],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"systematic_review","study_design_scores_codex":[0.0007414049,0.001029644,0.1774572,0.01520921,0.000620621,0.005383354,0.005590527,0.00009755495,0.1191157,0.02082129,0.001779042,0.6521544],"study_design_scores_gemma":[0.08511098,0.01124404,0.2109873,0.2496729,0.0005911125,0.1194331,0.0170681,0.02404934,0.2452563,0.008561585,0.02343797,0.004587233],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7149932,0.2834457,0.000104217,0.0002148373,0.0002893389,0.0003943248,0.00002329243,0.00005879507,0.0004762291],"genre_scores_gemma":[0.9489888,0.05057525,0.00009334908,0.0000269042,0.0000125094,0.0001130898,0.00002500327,0.0000395981,0.000125524],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6475672,"threshold_uncertainty_score":0.9558413,"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."}}