{"id":"W3014464898","doi":"10.1093/rheumatology/keaa119","title":"New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation","year":2020,"lang":"en","type":"article","venue":"Lara D. Veeken","topic":"Osteomyelitis and Bone Disorders Research","field":"Medicine","cited_by":37,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Anakinra; Medicine; Interleukin 1 receptor antagonist; Canakinumab; Inflammation; Exome sequencing; Internal medicine; Gastroenterology; Receptor antagonist; Antagonist; Receptor; Phenotype; Gene; Genetics","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":[0.0002651276,0.0001267937,0.0002343448,0.00005602063,0.00006360703,0.0000597609,0.000161902,0.00008645572,0.0002423072],"category_scores_gemma":[0.0002070243,0.00008309054,0.00005413748,0.0005768159,0.00003595203,0.00008676877,0.0000405587,0.0003276927,0.00006429316],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003761361,"about_ca_system_score_gemma":0.0002092928,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008698682,"about_ca_topic_score_gemma":0.0005444958,"domain_scores_codex":[0.9985187,0.0001514605,0.0002009513,0.0002598202,0.0005518424,0.0003172422],"domain_scores_gemma":[0.9993908,0.0001086378,0.00005246204,0.0002245803,0.00007311739,0.0001503524],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00566536,0.001554051,0.7247877,0.0004005969,0.0009524837,0.009271684,0.03736459,0.0003527629,0.01819648,0.00072075,0.144741,0.0559925],"study_design_scores_gemma":[0.008659067,0.001565526,0.9688137,0.0001645684,0.0001393685,0.00009105912,0.001480682,0.00265198,0.000723608,0.0002794263,0.01512806,0.0003029965],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9682804,0.0004599055,0.0002955134,0.0246854,0.00004718463,0.0008193576,0.00002680015,0.00005984936,0.005325586],"genre_scores_gemma":[0.9945179,0.00006338875,0.0002408776,0.002691887,0.0001402013,0.00002710458,0.0002253096,0.00002498693,0.002068315],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2440259,"threshold_uncertainty_score":0.3388334,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03320558325809916,"score_gpt":0.2914945617156238,"score_spread":0.2582889784575246,"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."}}