Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity

Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity

PurposeThough copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. We sought to determine the diagnostic contribution of CNVs using genome-wide chromosomal microarray analysis (CMA)...

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Main Authors: Breanna J. Beers, Morgan N. Similuk, Rajarshi Ghosh, Bryce A. Seifert, Leila Jamal, Michael Kamen, Michael R. Setzer, Colleen Jodarski, Rylee Duncan, Devin Hunt, Madison Mixer, Wenjia Cao, Weimin Bi, Daniel Veltri, Eric Karlins, Lingwen Zhang, Zhiwen Li, Andrew J. Oler, Kathleen Jevtich, Yunting Yu, Haley Hullfish, Bibiana Bielekova, Pamela Frischmeyer-Guerrerio, An Dang Do, Laryssa A. Huryn, Kenneth N. Olivier, Helen C. Su, Jonathan J. Lyons, Christa S. Zerbe, V. Koneti Rao, Michael D. Keller, Alexandra F. Freeman, Steven M. Holland, Luis M. Franco, Magdalena A. Walkiewicz, Jia Yan
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-05-01
Series:Frontiers in Immunology
Subjects:
genetic
copy number
immunity
sequencing
microarray
diagnosis
Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2023.1172004/full

Internet

https://www.frontiersin.org/articles/10.3389/fimmu.2023.1172004/full

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