{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002734191,0.0003770106,0.0002658853,0.0006607902,0.0003490281,0.0002364226,0.0002373778,0.0004618004,0.001296623],"category_scores_gemma":[0.001560105,0.0001745768,0.000151473,0.0002704645,0.0002652918,0.0002482147,0.0001783733,0.0002846794,0.0002409586],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001501678,"about_ca_system_score_gemma":0.0001241038,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009867685,"about_ca_topic_score_gemma":0.001243071,"domain_scores_codex":[0.9997328,0.00006591948,0.00003094302,0.00007893819,0.00004910971,0.00004221363],"domain_scores_gemma":[0.9994967,0.0001834513,0.0001420448,0.00002300199,0.00004541223,0.0001093599],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003279469,0.00007456394,0.9892854,0.00001858617,0.00002228116,0.001254699,0.0001147,0.00006488757,0.005324889,0.00001669932,0.0001070131,0.003388294],"study_design_scores_gemma":[0.00007353804,0.0009759932,0.9783539,0.00001721533,0.00004863503,0.01727117,0.0002360529,0.0008639406,0.001727866,0.00004665077,0.0003771521,0.00000778081],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995854,0.00007583477,0.00006003958,0.00001440932,0.000002387452,0.000006646311,0.00002663064,0.000003002168,0.0002257206],"genre_scores_gemma":[0.9995909,0.00003929669,0.0001882157,0.00002607399,0.000007811262,0.000006064209,0.00008154222,0.000001101665,0.00005881359],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001296623,"threshold_uncertainty_score":0.004337609,"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."}}