{"id":"W2917063005","doi":"10.14785/lymphosign-2019-0001","title":"Coronin 1A deficiency identified by newborn screening for severe combined immunodeficiency","year":2019,"lang":"en","type":"article","venue":"LymphoSign Journal","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Severe combined immunodeficiency; Immunodeficiency; Hypogammaglobulinemia; Biology; Primary immunodeficiency; Sanger sequencing; Exome sequencing; Immunology; Mutation; Immunodeficiency Syndrome; Immune system; Virology; Antibody; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow","insufficient_payload"],"consensus_categories":["insufficient_payload"],"category_scores_codex":[0.001059263,0.0004371367,0.0005723373,0.0002200239,0.001224574,0.0001962425,0.001021255,0.0003613977,0.001485476],"category_scores_gemma":[0.0001046484,0.0004001154,0.0004247902,0.0003556778,0.0002290421,0.0004695608,0.0001229401,0.0005581432,0.0008668677],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001356743,"about_ca_system_score_gemma":0.0002730102,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008919259,"about_ca_topic_score_gemma":6.996943e-7,"domain_scores_codex":[0.9970517,0.0001893516,0.00088997,0.0005321801,0.0001377899,0.001198986],"domain_scores_gemma":[0.9984514,0.0002479765,0.0005258508,0.0005205111,0.0002264903,0.00002776502],"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":[0.001401636,0.000655752,0.00204587,0.00005385494,0.0002422246,0.000004650944,0.001390121,0.0003011416,0.8823595,0.002197525,0.01820267,0.09114506],"study_design_scores_gemma":[0.06518304,0.006314205,0.0146106,0.0008509099,0.0005861507,0.005187052,0.01516238,0.001291544,0.1001411,0.006708027,0.7795175,0.004447459],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7733289,0.1101463,0.1028444,0.0004534229,0.006230445,0.00132981,0.0001254091,0.0002306496,0.005310713],"genre_scores_gemma":[0.9888853,0.0002525237,0.0005307046,0.0004078507,0.00001154241,0.00003516745,0.0002091927,0.00006429064,0.009603455],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7822183,"threshold_uncertainty_score":0.9999111,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008508274905008089,"score_gpt":0.2218671589301177,"score_spread":0.2133588840251096,"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."}}