{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007712785,0.0004240434,0.0001874257,0.0003940764,0.002571986,0.0007219817,0.0008063252,0.0003222156,0.002708107],"category_scores_gemma":[0.001173112,0.0002400052,0.0002694738,0.0008448461,0.0007252911,0.000233443,0.001316345,0.0004275668,0.0005067487],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01907335,"about_ca_system_score_gemma":0.02716081,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8386016,"about_ca_topic_score_gemma":0.9424231,"domain_scores_codex":[0.9994085,0.00007891078,0.00002692278,0.00007147518,0.000188509,0.0002257623],"domain_scores_gemma":[0.9987865,0.00005466272,0.0001215126,0.0000672914,0.0002674711,0.0007025718],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008781945,0.001280897,0.721801,0.0004784048,0.0001228717,0.032035,0.02050374,0.001781527,0.01332714,0.001556906,0.03131643,0.1749179],"study_design_scores_gemma":[0.000162496,0.002776718,0.8857121,0.0003295788,0.00009542277,0.0289769,0.01819848,0.001908814,0.001930243,0.0003558434,0.05944547,0.0001079127],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9776421,0.001542201,0.00168811,0.001418447,0.00007884605,0.0006484125,0.001414735,0.000117258,0.01544986],"genre_scores_gemma":[0.9822307,0.002393778,0.006284897,0.0007290326,0.0000434276,0.0001681701,0.001089005,0.00006296517,0.006997976],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1613984,"threshold_uncertainty_score":0.3246977,"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."}}