{"id":"W2994917050","doi":"10.3389/fimmu.2019.02940","title":"Ataxia Telangiectasia Diagnosed on Newborn Screening–Case Cohort of 5 Years' Experience","year":2019,"lang":"en","type":"article","venue":"Frontiers in Immunology","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; McMaster Children's Hospital; McMaster University; Newborn Screening Ontario; SickKids Foundation; University of Toronto; Thunder Bay Regional Health Sciences Centre; Hospital for Sick Children","funders":"Immunodeficiency Canada; Jeffrey Modell Foundation","keywords":"Ataxia-telangiectasia; Medicine; Nijmegen breakage syndrome; Exome sequencing; Immunodeficiency; Population; Genetic disorder; Immunology; Mutation; Pediatrics; Gene; Oncology; Internal medicine; Immune system; Genetics; Biology; DNA damage; DNA","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0002387474,0.0005519773,0.0003961663,0.001184218,0.001421059,0.0007380064,0.0005316852,0.0007151203,0.00183116],"category_scores_gemma":[0.001126272,0.0003440196,0.0005133778,0.0007258785,0.0005804254,0.0005845073,0.0008089153,0.0005177968,0.0003261611],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001141413,"about_ca_system_score_gemma":0.0008646605,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01622821,"about_ca_topic_score_gemma":0.01754712,"domain_scores_codex":[0.9994308,0.00005521186,0.00005898227,0.0001548168,0.0001096954,0.0001903924],"domain_scores_gemma":[0.9993746,0.00006140384,0.0001078963,0.00002760207,0.0000775737,0.0003509708],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007466061,0.0001645204,0.7273024,0.00002241932,0.00003391482,0.2649934,0.001163051,0.0001022817,0.001392948,0.0001862563,0.0004702133,0.004093987],"study_design_scores_gemma":[0.00001204196,0.0004668167,0.5306276,0.00005783201,0.00004237695,0.4633133,0.002609189,0.0003514354,0.0004939282,0.0001924323,0.00179609,0.00003687353],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976665,0.0002714707,0.0001624477,0.0000774561,0.00001391811,0.00003030304,0.0001234776,0.000008983913,0.001645538],"genre_scores_gemma":[0.9991208,0.0001894497,0.0001108457,0.00009017113,0.00001827743,0.00000907355,0.0001180386,0.000005442804,0.0003379512],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01622821,"threshold_uncertainty_score":0.03226745,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005369013582235471,"score_gpt":0.2249729948419899,"score_spread":0.2196039812597544,"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."}}