{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001647491,0.000240739,0.0003239815,0.0009929938,0.0008843801,0.001066296,0.0007058696,0.0009823884,0.003513962],"category_scores_gemma":[0.01194822,0.0001917927,0.0002641852,0.001169828,0.0007779314,0.001786609,0.001233508,0.001750518,0.0002862896],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008866471,"about_ca_system_score_gemma":0.001749197,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006317602,"about_ca_topic_score_gemma":0.008633948,"domain_scores_codex":[0.9984651,0.0004610352,0.0002223543,0.0002164838,0.0003086807,0.0003265215],"domain_scores_gemma":[0.9857262,0.007266867,0.003913355,0.0004019883,0.0009872845,0.001704271],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00008415713,0.00008279275,0.9193773,0.0001140886,0.00001902821,0.03221158,0.001449866,0.0003489514,0.0009643309,0.0007366146,0.004212028,0.04039922],"study_design_scores_gemma":[0.00001914175,0.0002053672,0.8217505,0.0009414345,0.00005359903,0.154059,0.009635394,0.001176831,0.0007903069,0.002419728,0.008883354,0.00006546568],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9542744,0.008069146,0.00242178,0.02574593,0.000164162,0.00005348258,0.0004638529,0.00008698366,0.008720386],"genre_scores_gemma":[0.9944268,0.001618509,0.001515204,0.001940049,0.0001731553,0.00001287363,0.0001264487,0.00001193166,0.0001749554],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006317602,"threshold_uncertainty_score":0.01256168,"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."}}