{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0008503626,0.0003889518,0.0002702904,0.0004044352,0.0004194947,0.0007766493,0.0003503768,0.0004667197,0.006312557],"category_scores_gemma":[0.00151945,0.0001833935,0.0006579377,0.0003261179,0.000420546,0.0001962208,0.0003579045,0.0004925212,0.001007371],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005534606,"about_ca_system_score_gemma":0.0008606009,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004971247,"about_ca_topic_score_gemma":0.006474719,"domain_scores_codex":[0.9995702,0.00008678685,0.00003868189,0.0001340843,0.0001229779,0.00004722067],"domain_scores_gemma":[0.9989894,0.0005338269,0.0001345214,0.00013049,0.00009924408,0.0001125165],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.002435309,0.0005020503,0.2831794,0.0007709312,0.0004279885,0.008262265,0.0005461875,0.01121629,0.5847107,0.001909396,0.02101366,0.08502586],"study_design_scores_gemma":[0.0001625378,0.0006989516,0.4528942,0.0002735293,0.0003471259,0.009431906,0.0004506268,0.07801272,0.4332147,0.003915898,0.02043471,0.000163149],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8989999,0.0004637491,0.07197805,0.001154331,0.0002168453,0.0005246651,0.01798371,0.004625554,0.004053238],"genre_scores_gemma":[0.9161313,0.0002203722,0.0730603,0.0007173347,0.00009041678,0.0001549095,0.007872071,0.0005385783,0.001214749],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006312557,"threshold_uncertainty_score":0.02111757,"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."}}