{"id":"W3091221615","doi":"10.1002/art.41549","title":"Sequence‐Based Screening of Patients With Idiopathic Polyarteritis Nodosa, Granulomatosis With Polyangiitis, and Microscopic Polyangiitis for Deleterious Genetic Variants in <i>ADA2</i>","year":2020,"lang":"en","type":"article","venue":"Arthritis & Rheumatology","topic":"Vasculitis and related conditions","field":"Medicine","cited_by":48,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Joseph’s Healthcare Hamilton; Mount Sinai Hospital","funders":"National Center for Advancing Translational Sciences; National Institute of Arthritis and Musculoskeletal and Skin Diseases; Deutsche Forschungsgemeinschaft; National Center for Research Resources; Division of Intramural Research, National Institute of Allergy and Infectious Diseases","keywords":"Polyarteritis nodosa; Microscopic polyangiitis; Granulomatosis with polyangiitis; Nonsynonymous substitution; Vasculitis; Medicine; Immunology; Internal medicine; Biology; Disease; 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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00008543412,0.0003091086,0.0009453637,0.0002065598,0.0001491343,0.00002935957,0.0001111696,0.0002196505,0.00004804028],"category_scores_gemma":[0.00005881859,0.0002807815,0.00009732508,0.0003704386,0.0004170735,0.0001233536,0.00003705148,0.0002339055,0.000003925886],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002762747,"about_ca_system_score_gemma":0.0002290172,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000878892,"about_ca_topic_score_gemma":0.000584357,"domain_scores_codex":[0.9978633,0.000095576,0.0006431023,0.0005628471,0.00026597,0.0005692184],"domain_scores_gemma":[0.9989909,0.00006476577,0.0002149771,0.0002552072,0.0001946986,0.0002794328],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0007703791,0.0002196922,0.9649409,0.0005750604,0.000216224,0.0004549655,0.0006889332,0.00001371279,0.004285776,0.0002528054,0.00006233049,0.02751921],"study_design_scores_gemma":[0.03511088,0.006232213,0.9443823,0.006286052,0.0002401197,0.003198623,0.000257078,0.0007801306,0.002602113,0.0000791147,0.0001619205,0.0006695255],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9854553,0.00484498,0.006424879,0.001733338,0.00005845593,0.0009725823,0.0004106448,0.00006827975,0.00003151399],"genre_scores_gemma":[0.9879007,0.0008184034,0.01021748,0.0006764638,0.0000127557,0.0001412355,0.0001618458,0.00006886619,0.000002242693],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0343405,"threshold_uncertainty_score":0.9999644,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009806756061060793,"score_gpt":0.2180185961458578,"score_spread":0.208211840084797,"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."}}