{"id":"W2808975065","doi":"10.3390/ijns4020019","title":"Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada","year":2018,"lang":"en","type":"article","venue":"International Journal of Neonatal Screening","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"CancerCare Manitoba; University of Manitoba","funders":"","keywords":"Newborn screening; Severe combined immunodeficiency; Population; Mutation; Incidence (geometry); Founder effect; Genotype; Immunodeficiency; Biology; Genetics; Medicine; Pediatrics; Virology; Gene; Environmental health; Haplotype","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":[0.001479429,0.0004715965,0.0003155187,0.002719806,0.002234676,0.0008842786,0.001223603,0.0002894549,0.001656444],"category_scores_gemma":[0.002573261,0.0003959721,0.00030306,0.002367778,0.0004689186,0.0001805397,0.000655886,0.00034583,0.0004458081],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0111088,"about_ca_system_score_gemma":0.02268447,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9680714,"about_ca_topic_score_gemma":0.9813548,"domain_scores_codex":[0.9988587,0.0002047309,0.00007782799,0.0001830627,0.0005464633,0.0001291665],"domain_scores_gemma":[0.9982224,0.0001030161,0.00009867968,0.00005089942,0.001397007,0.0001279681],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002951051,0.0003452985,0.8355508,0.0002185483,0.0001151267,0.0007747035,0.00318377,0.002442697,0.05432212,0.001069467,0.003893604,0.09778873],"study_design_scores_gemma":[0.0000498066,0.0004130946,0.9528944,0.0001334672,0.0001358574,0.0009022871,0.003424572,0.007690608,0.018476,0.0001379393,0.01565859,0.00008334659],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"methods","genre_scores_codex":[0.9242501,0.001631722,0.03922933,0.0009013097,0.00009422759,0.004630291,0.007385971,0.0006669943,0.02121013],"genre_scores_gemma":[0.8700783,0.001743209,0.1137485,0.0005822265,0.0000182178,0.001583774,0.003313294,0.0000601186,0.008872419],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.0319286,"threshold_uncertainty_score":0.08060038,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01885691329339171,"score_gpt":0.271189066979895,"score_spread":0.2523321536865032,"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."}}