Clinical relevance of mosaic variants detected by exome sequencing

20260 citationsJournal Articlehybrid Open Access

Authors

Rajarshi Ghosh · National Institute of Allergy and Infectious Diseases

Zeeshan Fazal

Derek J. Bays

Mari J. Tokita · National Institute of Allergy and Infectious Diseases

Katie L. Lewis · National Institute of Allergy and Infectious Diseases

Alexander J. Paul · Washington University in St. Louis

Elizabeth G. Schmitz · Washington University in St. Louis

Abstract

Mosaic variants contribute significantly to the molecular diagnosis and prognosis of immune and hematologic disorders and are missed by typical germline variant-calling workflow.

Topics & Keywords

Genomics and Rare Diseases Immunodeficiency and Autoimmune Disorders Cancer Genomics and Diagnostics

UN Sustainable Development Goals

Good health and well-being

Publication Details

Published in: Journal of Allergy and Clinical Immunology

DOI: 10.1016/j.jaci.2026.02.011

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