Article
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity.
Frontiers in immunology - 1 Jan 2023
Beers Breanna J, Similuk Morgan N, Ghosh Rajarshi, Seifert Bryce A, Jamal Leila, Kamen Michael, Setzer Michael R, Jodarski Colleen, Duncan Rylee, Hunt Devin, Mixer Madison, Cao Wenjia, Bi Weimin, Veltri Daniel, Karlins Eric, Zhang Lingwen, Li Zhiwen, Oler Andrew J, Jevtich Kathleen, Yu Yunting, Hullfish Haley, Bielekova Bibiana, Frischmeyer-Guerrerio Pamela, Dang Do An, Huryn Laryssa A, Olivier Kenneth N, Su Helen C, Lyons Jonathan J, Zerbe Christa S, Rao V Koneti, Keller Michael D, Freeman Alexandra F, Holland Steven M, Franco Luis M, Walkiewicz Magdalena A, Yan Jia
Abstract excerpt
Purpose: Though 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) in children with IEI. Methods: We performed exome sequencing (ES) and CMA for 332 unrelated pediatric probands...
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