Clinical relevance of mosaic variants detected by exome sequencing
Mosaic variants contribute significantly to the molecular diagnosis and prognosis of immune and hematologic disorders and are missed by typical germline variant-calling workflow.
Authors
- Derek J. Bays (ORCID: https://orcid.org/0000-0003-0264-5569)
- Amy D. Klion (ORCID: https://orcid.org/0000-0002-4986-5326)
- Daniel S. Marchuk (ORCID: https://orcid.org/0000-0003-3260-2180)
- Hirsh D. Komarow (ORCID: https://orcid.org/0000-0001-7012-9406)
- Ottavia M. Delmonte (ORCID: https://orcid.org/0000-0002-4772-0799)
- Zeeshan Fazal (ORCID: https://orcid.org/0000-0003-0111-7668)
- PT Murphy
- W. STROBER
- NT Gentile
- Sarah A. Bannon (ORCID: https://orcid.org/0000-0001-5867-3978)
- Adrienne Borges
- Ivan J. Fuss (ORCID: https://orcid.org/0000-0002-1278-2340)
- Magdalena Walkiewicz
- David H. McDermott (ORCID: https://orcid.org/0000-0001-6978-0867)
- Rachel Gore Moses (ORCID: https://orcid.org/0000-0002-8253-5441)
- Ekaterina Damskey
- Adriana Almeida de Jesus
- Alexander J. Paul
- AF Freeman
- L. Notarangelo
- Raphaela Goldbach-Mansky
- Nermina Saucier
- Katie L. Lewis
- Michael Kamen
- Elizabeth G. Schmitz
- Jia Yan
- Aislinn Bloom
- Mari J. Tokita
- Rajarshi Ghosh
- Nadjalisse C. Reynolds-Lallement
Institutions
- University of North Carolina at Chapel Hill (US)
- United States Department of Health and Human Services (US)
- National Institutes of Health (US)
- Washington University in St. Louis (US)
- Kuwait University (KW)
- National Institute of Allergy and Infectious Diseases (US)
- Office of Extramural Research (US)
- Immune Deficiency Foundation (US)
Publication Details
- Journal
- Journal of Allergy and Clinical Immunology
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1016/j.jaci.2026.02.011
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00