{"id":"W3171701100","doi":"10.1111/pai.13571","title":"Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: A call for access to genetic testing","year":2021,"lang":"en","type":"article","venue":"Pediatric Allergy and Immunology","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; BC Children's Hospital; University of British Columbia; Western University","funders":"Michael Smith Health Research BC; BC Children’s Hospital Foundation","keywords":"Medicine; Genetic testing; Immunity; MEDLINE; Computational biology; Genetics; Immunology; Internal medicine; Immune system","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0004066601,0.0002648834,0.0006168101,0.0002769491,0.000256176,0.00002238931,0.0003716542,0.000462269,0.00004534031],"category_scores_gemma":[0.002979046,0.0002659258,0.0001086872,0.0005255758,0.0003531232,0.0001182542,0.0006527337,0.000505432,0.000011443],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000186589,"about_ca_system_score_gemma":0.000204964,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007065591,"about_ca_topic_score_gemma":0.0002438204,"domain_scores_codex":[0.9977247,0.0004092298,0.0007643405,0.0005214047,0.00003542405,0.0005448766],"domain_scores_gemma":[0.9967556,0.002475891,0.0002197379,0.0003485345,0.0001803705,0.00001986918],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002378442,0.002317201,0.5906169,0.0003678385,0.001963367,0.0001680847,0.005890648,0.0006078527,0.04988957,0.001135284,0.001674741,0.3429901],"study_design_scores_gemma":[0.003311424,0.0006352035,0.9884063,0.00003610872,0.000127153,0.0001999162,0.001161626,0.00002025654,0.0008932049,0.000403153,0.004436497,0.0003691508],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.844224,0.1542826,0.0001806399,0.0002220723,0.0006148385,0.0003339744,0.00002708978,0.0000251227,0.00008965824],"genre_scores_gemma":[0.9854005,0.01354828,0.0003897655,0.0002691316,0.00001572398,0.00008748144,0.00006138719,0.00002247852,0.0002052245],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3977894,"threshold_uncertainty_score":0.9999793,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02869189644805379,"score_gpt":0.2932152366378101,"score_spread":0.2645233401897563,"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."}}