{"id":"W4281866964","doi":"10.3899/jrheum.211200","title":"Hemophagocytic Lymphohistiocytosis Gene Variants in Childhood-Onset Systemic Lupus Erythematosus With Macrophage Activation Syndrome","year":2022,"lang":"en","type":"article","venue":"The Journal of Rheumatology","topic":"Autoimmune and Inflammatory Disorders Research","field":"Medicine","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Arthritis Society","funders":"","keywords":"Nonsynonymous substitution; Medicine; Exome sequencing; Exome; Population; Hemophagocytic lymphohistiocytosis; Macrophage activation syndrome; Allele frequency; Immunology; Cohort; Minor allele frequency; Internal medicine; Allele; Genetics; Gene; Arthritis; Biology; Disease; Mutation; Genome","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"about_ca":true,"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":[0.0003225361,0.0003063894,0.0002710691,0.0005594176,0.0003865538,0.0003637957,0.0001496584,0.0002727445,0.001390029],"category_scores_gemma":[0.001053985,0.00009119637,0.0001946718,0.0008317707,0.0004009345,0.0001653468,0.0003050143,0.0001979793,0.00009418999],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002491967,"about_ca_system_score_gemma":0.000265139,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005233256,"about_ca_topic_score_gemma":0.00776795,"domain_scores_codex":[0.9996618,0.00007264658,0.000048596,0.00011546,0.00005198159,0.00004947985],"domain_scores_gemma":[0.9993723,0.0002395831,0.0002459561,0.00002265595,0.00004103097,0.00007850957],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002440487,0.0000092731,0.9911544,0.00002807242,0.00004949256,0.001353936,0.0001154609,0.0001613159,0.004112962,0.00006165225,0.0001039972,0.002605384],"study_design_scores_gemma":[0.0000185426,0.0000466332,0.9941021,0.0000162758,0.00004824178,0.004264027,0.0001435474,0.000292687,0.0006984871,0.00004471837,0.0003217777,0.000003077724],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990854,0.0002705917,0.0001295754,0.000027892,0.000002103912,0.000004332343,0.0002308189,0.00000438874,0.0002448575],"genre_scores_gemma":[0.9995781,0.00008633119,0.0001270848,0.00001352521,0.000003892445,0.000002038091,0.0001423362,0.0000014289,0.00004531335],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005233256,"threshold_uncertainty_score":0.0104056,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009764007085111631,"score_gpt":0.2411883363621115,"score_spread":0.2314243292769999,"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."}}