{"id":"W2900926271","doi":"10.1172/jci124011","title":"Rescue of recurrent deep intronic mutation underlying cell type–dependent quantitative NEMO deficiency","year":2018,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Immunodeficiency and Autoimmune Disorders","field":"Immunology and Microbiology","cited_by":53,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"NIHR Newcastle Biomedical Research Centre; Japan Society for the Promotion of Science; National Institutes of Health; Institut National de la Santé et de la Recherche Médicale; Agence Nationale de Sécurité du Médicament et des Produits de Santé; Japan Agency for Medical Research and Development; Newcastle University; Hospital for Sick Children; National Institute of Allergy and Infectious Diseases; Howard Hughes Medical Institute; Université Paris Descartes; Research Center Network for Realization of Regenerative Medicine; National Institute for Health and Care Research; St. Giles Foundation; Agence Nationale de la Recherche","keywords":"Mutation; Genetics; Biology; Computational biology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002282078,0.0001292452,0.0004194473,0.0001625557,0.0001525299,0.00001399129,0.0002645187,0.0002336332,0.000136005],"category_scores_gemma":[0.001964533,0.0001070433,0.0001840196,0.0002839457,0.0007873049,0.0002582562,0.00004001843,0.0005713679,0.00012224],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003852467,"about_ca_system_score_gemma":0.0003729898,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003495804,"about_ca_topic_score_gemma":0.00001433475,"domain_scores_codex":[0.9971215,0.000619782,0.001751904,0.0001735414,0.0001208338,0.000212505],"domain_scores_gemma":[0.9970064,0.0005455336,0.001476193,0.0001748656,0.000778362,0.00001861461],"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":[0.003743551,0.002272076,0.01128862,0.0002213879,0.0004834914,0.00001428728,0.01307028,0.002117197,0.7528116,0.02088163,0.0008491952,0.1922467],"study_design_scores_gemma":[0.02194881,0.04430895,0.3721022,0.001732682,0.00129857,0.0003527256,0.02154248,0.005157545,0.4511486,0.06958118,0.009178935,0.001647271],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9831284,0.009242891,0.003751826,0.0002373198,0.002946114,0.0001232792,0.000002067088,0.00001062587,0.0005575312],"genre_scores_gemma":[0.9987389,0.0002610278,0.0007317713,0.0001137564,0.00002412115,9.999891e-7,0.00001683642,0.000009954021,0.000102591],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3608136,"threshold_uncertainty_score":0.43651,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09378151201178306,"score_gpt":0.3848726889200379,"score_spread":0.2910911769082548,"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."}}