{"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":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.001185609,0.0001595479,0.0004142014,0.0007080112,0.0005907197,0.0000690051,0.0002331127,0.0002724291,0.002874238],"category_scores_gemma":[0.002488908,0.0001707495,0.0001605536,0.0006192201,0.00004651692,0.0001011837,0.00002922347,0.001324662,0.00004843407],"about_ca_system_candidate":true,"about_ca_system_consensus":true,"about_ca_system_score_codex":0.004276655,"about_ca_system_score_gemma":0.008590573,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006208954,"about_ca_topic_score_gemma":0.008183636,"domain_scores_codex":[0.9969292,0.0001788727,0.0008031479,0.0002154484,0.001220691,0.0006526152],"domain_scores_gemma":[0.9974923,0.0003802467,0.0003135628,0.000153562,0.0002071929,0.001453124],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00004765149,0.0004244981,0.3542323,0.0001455918,0.0004034437,0.008654158,0.001091444,0.0001262391,0.00007060828,0.001657067,0.619114,0.0140329],"study_design_scores_gemma":[0.006605013,0.0002962998,0.1731257,0.0002546276,0.0001477863,0.004285342,0.001130509,0.001828268,0.000004671003,0.001109478,0.8108895,0.0003228784],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9045758,0.001505098,0.0003170334,0.07498402,0.01614114,0.001195857,0.0005449931,0.0000837627,0.0006522897],"genre_scores_gemma":[0.9726485,0.0003258468,0.0007667618,0.01639581,0.001951548,0.0003241487,0.0004741157,0.0001048469,0.007008442],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1917754,"threshold_uncertainty_score":0.9995458,"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."}}