{"id":"W4223538031","doi":"10.1503/cmaj.211770","title":"Innovations in genomics for undiagnosed diseases: vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome","year":2022,"lang":"en","type":"article","venue":"Canadian Medical Association Journal","topic":"Otitis Media and Relapsing Polychondritis","field":"Medicine","cited_by":11,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Tuberculosis; Genomic medicine; Genomics; Medicine; Data science; Computer science; Pathology; Biology; Computational biology; Genome; Genetics; Gene","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":[0.004151238,0.000579186,0.0005774994,0.001334796,0.0007441722,0.001528672,0.000755049,0.002588461,0.003732176],"category_scores_gemma":[0.008906753,0.0001680942,0.0003988105,0.0008666484,0.003425237,0.002853685,0.001276133,0.004354852,0.0009470089],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001286891,"about_ca_system_score_gemma":0.001862453,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002147914,"about_ca_topic_score_gemma":0.002345114,"domain_scores_codex":[0.998646,0.0005460483,0.0001281052,0.0002432635,0.0003329934,0.0001037018],"domain_scores_gemma":[0.994238,0.003683212,0.0003357288,0.0002694412,0.0008298699,0.0006436928],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0007338086,0.0002600276,0.02868417,0.001269811,0.000224179,0.008616799,0.001718949,0.0006793122,0.01899478,0.1514726,0.1786152,0.6087304],"study_design_scores_gemma":[0.0002381324,0.0004155278,0.02676486,0.002412844,0.0002212774,0.04882504,0.00163847,0.0013979,0.007865051,0.1864991,0.7235255,0.0001963309],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.03715722,0.2653612,0.04718811,0.6102394,0.01548776,0.00008277113,0.0006438853,0.001003131,0.02283662],"genre_scores_gemma":[0.3189727,0.3245116,0.09473586,0.1818001,0.05476274,0.0001834179,0.0008437696,0.0004615709,0.02372811],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.004151238,"threshold_uncertainty_score":0.02195412,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007073259093041389,"score_gpt":0.2343377976839014,"score_spread":0.2272645385908601,"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."}}