{"id":"W4312018826","doi":"10.1126/science.abo3627","title":"Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children","year":2022,"lang":"en","type":"article","venue":"Science","topic":"Kawasaki Disease and Coronary Complications","field":"Medicine","cited_by":167,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"National Center for Advancing Translational Sciences; National Human Genome Research Institute; Agencia Estatal de Investigación; Instituto de Salud Carlos III; Canadian Institutes of Health Research; National Institute of Allergy and Infectious Diseases; Anschutz Medical Campus, University of Colorado; Perelman School of Medicine, University of Pennsylvania; Lékařská Fakulta v Plzni, Univerzita Karlova; National Institutes of Health; Agencia Nacional de Investigación y Desarrollo; Istanbul Üniversitesi-Cerrahpasa; Imam Abdulrahman Bin Faisal University; Vlaamse regering; Lékařská fakulta, Masarykova univerzita; Universitat Autònoma de Barcelona; Directorate for Biological Sciences; Regione Lazio; Mansoura University; Sveučilište Josipa Jurja Strossmayera u Osijeku; Science for Life Laboratory; Centre Hospitalier Universitaire Vaudois; National Cancer Institute; Université de Lausanne; Université de Genève; Honjo International Scholarship Foundation; National and Kapodistrian University of Athens; Ministerio de Ciencia e Innovación; Università degli Studi di Pavia; Fondation de France; Necmettin Erbakan Üniversitesi; Masarykova Univerzita; Universiteit Gent; Université Hassan II de Casablanca; Knut och Alice Wallenbergs Stiftelse; Yale University; Karolinska Institutet; National Science Foundation; Fundación Mapfre; Fonds Wetenschappelijk Onderzoek; Tel Aviv University; Washington University in St. Louis; KU Leuven; Fondation pour la Recherche Médicale; Institut National de la Santé et de la Recherche Médicale; Bilkent Üniversitesi; St. Giles Foundation; Ministerstvo Zdravotnictví Ceské Republiky; Genentech; European Commission; Bursa Uludağ Üniversitesi; Institut des maladies génétiques Imagine; Barcelona Institute of Science and Technology; Centres de Recerca de Catalunya; Generalitat de Catalunya; Ministère de l'Enseignement supérieur, de la Recherche et de l'Innovation; Fondazione IRCCS Policlinico San Matteo; Ondokuz Mayis Üniversitesi; BC Children's Hospital; Université Libanaise; European Molecular Biology Organization; Case Western Reserve University; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; George Mason University; Children's Hospital Colorado; Cleveland Clinic; Sveučilište u Zagrebu; Cleveland State University; Memorial Sloan-Kettering Cancer Center; Kent State University; Fisher Center for Alzheimer's Research Foundation; Fondation du Souffle; École Polytechnique Fédérale de Lausanne; University of Pennsylvania; Hôpitaux Universitaires de Genève; Instituto Tecnológico y de Energías Renovables; Thrasher Research Fund; Agence Nationale de la Recherche; Jeffrey Modell Foundation; Universitair Ziekenhuis Gent; Universidade de São Paulo; Children's Hospital of Philadelphia; Horizon 2020 Framework Programme; Vetenskapsrådet; European Academy of Dermatology and Venereology; Georgia Clinical and Translational Science Alliance; Howard Hughes Medical Institute; Univerzita Karlova v Praze","keywords":"Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2); Medicine; Coronavirus disease 2019 (COVID-19); RNase P; Biology; Genetics; RNA; Disease; Internal medicine; Gene; Infectious disease (medical specialty)","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004798135,0.00007815134,0.0001721631,0.0004780801,0.0001008824,0.000005253517,0.0003298449,0.00002018584,0.00004856398],"category_scores_gemma":[0.00005698785,0.00008012956,0.00003789436,0.001848429,0.0002246102,0.0001428657,0.0001865775,0.0001929488,0.0000233705],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001937304,"about_ca_system_score_gemma":0.0004608234,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001904749,"about_ca_topic_score_gemma":0.00003780256,"domain_scores_codex":[0.9986767,0.00005598943,0.0003311909,0.0002945607,0.0004187353,0.0002228087],"domain_scores_gemma":[0.9994095,0.00001895667,0.00008727996,0.000381892,0.00003812677,0.00006427551],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00002927526,0.0002881321,0.9304617,0.00002466462,0.000006737071,0.0001216415,0.0005175209,0.0002438291,0.06702467,0.0005411843,0.00002585743,0.0007147815],"study_design_scores_gemma":[0.0007727357,0.00008999909,0.9952943,0.00006312234,0.000008011598,0.0002479796,0.0002549056,0.001233494,0.00175618,0.0001356903,0.00006360764,0.00007997493],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983611,0.0002355855,0.000002557647,0.000241685,0.00006302603,0.0004707746,0.0000155691,0.00002719378,0.0005824988],"genre_scores_gemma":[0.9996504,0.000003652067,0.00005074785,0.0001312784,0.000003373796,0.00008084985,0.0000102948,0.000006893851,0.00006254901],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06526849,"threshold_uncertainty_score":0.3267589,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01413347760976834,"score_gpt":0.2798903845372563,"score_spread":0.265756906927488,"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."}}