{"id":"W3164012871","doi":"10.3899/jrheum.210149","title":"Somatic Mutation in <i>UBA1</i> and ANCA-associated Vasculitis","year":2021,"lang":"en","type":"article","venue":"The Journal of Rheumatology","topic":"Otitis Media and Relapsing Polychondritis","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Hôpital du Sacré-Cœur de Montréal","funders":"","keywords":"Exome sequencing; Medicine; Haploinsufficiency; Gene; Exon skipping; RNA splicing; Intron; Genetics; Transcriptome; Computational biology; Mutation; RNA; Gene expression; Biology; Phenotype","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"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":[0.0003580031,0.00006487696,0.0003675745,0.00008627468,0.00003722843,0.000007047834,0.00004294938,0.00008820606,0.00005191038],"category_scores_gemma":[0.0006655914,0.00004356221,0.00005357548,0.000159764,0.00009381694,0.00004989984,0.00001577791,0.0002789924,0.000006346121],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003358933,"about_ca_system_score_gemma":0.0001454929,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006379533,"about_ca_topic_score_gemma":0.0002333775,"domain_scores_codex":[0.9990312,0.0002324707,0.0003941322,0.00005512352,0.0001438658,0.0001431365],"domain_scores_gemma":[0.9992092,0.000317346,0.000210738,0.00008757139,0.0001103907,0.00006478213],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001840743,0.0004062415,0.9555902,0.000283516,0.0004710927,0.002022826,0.009553309,0.00001715167,0.005570881,0.0004495909,0.01040657,0.01504453],"study_design_scores_gemma":[0.02536111,0.00125768,0.4735605,0.004970159,0.0009025034,0.4685117,0.006952676,0.000592772,0.004898753,0.008694797,0.003943518,0.0003538895],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9876941,0.004881683,0.00007571341,0.005259247,0.001819684,0.00005001717,9.155349e-7,0.000006043466,0.0002126036],"genre_scores_gemma":[0.9938725,0.005083508,0.0002928563,0.0002304608,0.000008998822,6.271428e-7,0.000002793143,0.00000896661,0.0004993546],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4820297,"threshold_uncertainty_score":0.1776415,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008152263170561416,"score_gpt":0.2448428744360275,"score_spread":0.2366906112654661,"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."}}