{"id":"W4400640596","doi":"10.3390/genes15070920","title":"A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency—An Ontario Single-Centre Experience Spanning 2013–2023","year":2024,"lang":"en","type":"article","venue":"Genes","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa; Western University; University of Toronto; SickKids Foundation; Hospital for Sick Children; McMaster University; McMaster Children's Hospital; London Health Sciences Centre","funders":"","keywords":"Severe combined immunodeficiency; Newborn screening; Medicine; Referral; Pediatrics; Primary immunodeficiency; Immunodeficiency; Immune system; Immunology; Biology; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0001520854,0.000377015,0.0003987224,0.0002009641,0.0005662419,0.0001214179,0.000578676,0.0002605943,0.0002748249],"category_scores_gemma":[0.00002275166,0.0003625127,0.0001963185,0.0003243814,0.0001912403,0.0003033785,0.0001964822,0.0002952929,0.0003305061],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001502662,"about_ca_system_score_gemma":0.0002911506,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007670575,"about_ca_topic_score_gemma":0.002382918,"domain_scores_codex":[0.9979205,0.00008950112,0.000433992,0.000701942,0.00006322563,0.000790832],"domain_scores_gemma":[0.9990711,0.0001178931,0.00007067843,0.0005392456,0.0001755509,0.00002556265],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005111954,0.0004166749,0.0001626414,0.00007066003,0.000180513,0.000008378227,0.04037883,0.01895561,0.903458,0.002838297,0.001988939,0.03103027],"study_design_scores_gemma":[0.004145664,0.002029691,0.002583267,0.0006451402,0.0002493525,0.0001388147,0.03236179,0.02148153,0.07874339,0.001791014,0.853194,0.002636353],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9513057,0.0290614,0.01503449,0.0006034791,0.00149707,0.001055881,0.0001420557,0.0003449903,0.0009549414],"genre_scores_gemma":[0.9810944,0.00004043794,0.001020751,0.0004730635,0.000008644597,0.0001366118,0.0004012274,0.0000534099,0.01677151],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8512051,"threshold_uncertainty_score":0.9998827,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03933430280195853,"score_gpt":0.2696308069626346,"score_spread":0.2302965041606761,"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."}}