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Clinical relevance of mosaic variants detected by exome sequencing.

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Title: Clinical relevance of mosaic variants detected by exome sequencing.
Authors: Ghosh R; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md. Electronic address: rajarshi.ghosh@nih.gov., Fazal Z; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, Md., Oler AJ; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, Md., Tokita MJ; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md., Lewis KL; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md., Paul AJ; Department of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St Louis, St Louis, Mo., Schmitz EG; Department of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St Louis, St Louis, Mo., Saucier N; Department of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St Louis, St Louis, Mo., Yan J; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md., Kamen M; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md., Seifert BA; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md., Klion AD; Human Eosinophil Section, Laboratory of Parasitic Diseases, NIAID, NIH, Bethesda, Md., Khoury P; Human Eosinophil Section, Laboratory of Parasitic Diseases, NIAID, NIH, Bethesda, Md., Delmonte OM; Immune Deficiency Genetics Diseases Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Notarangelo LD; Immune Deficiency Genetics Diseases Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Freeman AF; Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Zerbe CS; Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Uzel G; Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Metcalfe DD; Mast Cell Biology Section, Laboratory of Allergic Diseases, NIAID, NIH, Bethesda, Md., Komarow HD; Mast Cell Biology Section, Laboratory of Allergic Diseases, NIAID, NIH, Bethesda, Md., Carter MC; Mast Cell Biology Section, Laboratory of Allergic Diseases, NIAID, NIH, Bethesda, Md., McDermott DH; Molecular Signaling Section, Laboratory of Molecular Immunology, NIAID, NIH, Bethesda, Md., Murphy PM; Molecular Signaling Section, Laboratory of Molecular Immunology, NIAID, NIH, Bethesda, Md., Olivier KN; Division of Pulmonary Diseases and Critical Care Medicine, University of North Carolina, Chapel Hill, NC., Fuss I; Mucosal Immunity Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Strober W; Mucosal Immunity Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Rao VK; Primary Immune Deficiency Clinic (ALPS Clinic), Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Bergerson JRE; Primary Immune Deficiency Clinic, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Almeida de Jesus A; Translational Autoinflammatory Disease Studies Unit, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Goldbach-Mansky R; Translational Autoinflammatory Disease Studies Unit, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Al-Herz W; Department of Pediatrics, College of Medicine, Kuwait University, Kuwait City, Kuwait., Holland SM; Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md., Cooper MA; Department of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St Louis, St Louis, Mo., Similuk MN; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md., Walkiewicz MA; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.
Corporate Authors: NIAID Centralized Sequencing Program
Source: The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2026 May; Vol. 157 (5), pp. 1195-1205. Date of Electronic Publication: 2026 Feb 20.
Publication Type: Journal Article
Journal Info: Publisher: Mosby Country of Publication: United States NLM ID: 1275002 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6825 (Electronic) Linking ISSN: 00916749 NLM ISO Abbreviation: J Allergy Clin Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Clinical relevance of mosaic variants detected by exome sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Ghosh+R%22">Ghosh R</searchLink>; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md. Electronic address: rajarshi.ghosh@nih.gov.<br /><searchLink fieldCode="AU" term="%22Fazal+Z%22">Fazal Z</searchLink>; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Oler+AJ%22">Oler AJ</searchLink>; Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Tokita+MJ%22">Tokita MJ</searchLink>; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Lewis+KL%22">Lewis KL</searchLink>; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Paul+AJ%22">Paul AJ</searchLink>; Department of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St Louis, St Louis, Mo.<br /><searchLink fieldCode="AU" term="%22Schmitz+EG%22">Schmitz EG</searchLink>; Department of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St Louis, St Louis, Mo.<br /><searchLink fieldCode="AU" term="%22Saucier+N%22">Saucier N</searchLink>; Department of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St Louis, St Louis, Mo.<br /><searchLink fieldCode="AU" term="%22Yan+J%22">Yan J</searchLink>; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Kamen+M%22">Kamen M</searchLink>; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Seifert+BA%22">Seifert BA</searchLink>; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Klion+AD%22">Klion AD</searchLink>; Human Eosinophil Section, Laboratory of Parasitic Diseases, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Khoury+P%22">Khoury P</searchLink>; Human Eosinophil Section, Laboratory of Parasitic Diseases, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Delmonte+OM%22">Delmonte OM</searchLink>; Immune Deficiency Genetics Diseases Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Notarangelo+LD%22">Notarangelo LD</searchLink>; Immune Deficiency Genetics Diseases Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Freeman+AF%22">Freeman AF</searchLink>; Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Zerbe+CS%22">Zerbe CS</searchLink>; Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Uzel+G%22">Uzel G</searchLink>; Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Metcalfe+DD%22">Metcalfe DD</searchLink>; Mast Cell Biology Section, Laboratory of Allergic Diseases, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Komarow+HD%22">Komarow HD</searchLink>; Mast Cell Biology Section, Laboratory of Allergic Diseases, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Carter+MC%22">Carter MC</searchLink>; Mast Cell Biology Section, Laboratory of Allergic Diseases, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22McDermott+DH%22">McDermott DH</searchLink>; Molecular Signaling Section, Laboratory of Molecular Immunology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Murphy+PM%22">Murphy PM</searchLink>; Molecular Signaling Section, Laboratory of Molecular Immunology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Olivier+KN%22">Olivier KN</searchLink>; Division of Pulmonary Diseases and Critical Care Medicine, University of North Carolina, Chapel Hill, NC.<br /><searchLink fieldCode="AU" term="%22Fuss+I%22">Fuss I</searchLink>; Mucosal Immunity Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Strober+W%22">Strober W</searchLink>; Mucosal Immunity Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Rao+VK%22">Rao VK</searchLink>; Primary Immune Deficiency Clinic (ALPS Clinic), Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Bergerson+JRE%22">Bergerson JRE</searchLink>; Primary Immune Deficiency Clinic, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Almeida+de+Jesus+A%22">Almeida de Jesus A</searchLink>; Translational Autoinflammatory Disease Studies Unit, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Goldbach-Mansky+R%22">Goldbach-Mansky R</searchLink>; Translational Autoinflammatory Disease Studies Unit, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Al-Herz+W%22">Al-Herz W</searchLink>; Department of Pediatrics, College of Medicine, Kuwait University, Kuwait City, Kuwait.<br /><searchLink fieldCode="AU" term="%22Holland+SM%22">Holland SM</searchLink>; Immunopathogenesis Section, Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Cooper+MA%22">Cooper MA</searchLink>; Department of Pediatrics, Division of Rheumatology & Immunology, Washington University School of Medicine in St Louis, St Louis, Mo.<br /><searchLink fieldCode="AU" term="%22Similuk+MN%22">Similuk MN</searchLink>; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.<br /><searchLink fieldCode="AU" term="%22Walkiewicz+MA%22">Walkiewicz MA</searchLink>; Centralized Sequencing Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, Md.
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  Data: <searchLink fieldCode="JN" term="%221275002%22">The Journal of allergy and clinical immunology</searchLink> [J Allergy Clin Immunol] 2026 May; Vol. 157 (5), pp. 1195-1205. <i>Date of Electronic Publication: </i>2026 Feb 20.
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