{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000130161,0.00014138,0.000252538,0.0001218076,0.00001751368,0.00000515592,0.0002771978,0.0002439541,0.00005131299],"category_scores_gemma":[0.00009003934,0.0001534789,0.00007749678,0.0001221032,0.0001220821,0.000004716534,0.0001349037,0.0001344434,0.00002308003],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000218095,"about_ca_system_score_gemma":0.00003391735,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007464148,"about_ca_topic_score_gemma":0.00001091207,"domain_scores_codex":[0.9989302,0.00008884144,0.0002269144,0.0003843847,0.00009040372,0.0002793154],"domain_scores_gemma":[0.9992134,0.00001536775,0.00009880828,0.0006138001,0.00002798104,0.00003065684],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0006686003,0.0001873794,0.4054412,0.00001515073,0.0002407085,0.0006019592,0.0004847564,0.00009006431,0.5556418,0.0001994495,0.00446914,0.03195987],"study_design_scores_gemma":[0.004002074,0.002519567,0.200065,0.00008086455,0.00003365294,0.0005538184,0.002963607,0.0002550631,0.696762,0.0002156572,0.09184742,0.0007013915],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9928053,0.0009892569,0.004199257,0.0000127164,0.0009118667,0.0003148197,0.00001370124,0.00001647725,0.0007365961],"genre_scores_gemma":[0.9814012,0.0001188405,0.01759687,0.00009242637,0.00003244867,0.00004444771,0.00005081904,0.0000251656,0.0006377734],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2053762,"threshold_uncertainty_score":0.6258688,"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."}}