Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

Abstract In more than one-third of primary immunodeficiency (PID) patients, extensive genetic analysis including whole-exome sequencing (WES) fails to identify the genetic defect. Whole-genome sequencing (WGS) is able to detect variants missed by other genomics platforms, enabling the molecular diag...

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Bibliographic Details
Main Authors: Daniele Merico, Yehonatan Pasternak, Mehdi Zarrei, Edward J. Higginbotham, Bhooma Thiruvahindrapuram, Ori Scott, Jessica Willett-Pachul, Eyal Grunebaum, Julia Upton, Adelle Atkinson, Vy H. D. Kim, Elbay Aliyev, Khalid Fakhro, Stephen W. Scherer, Chaim M. Roifman
Format: Article
Language:English
Published: Nature Portfolio 2021-11-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-021-00263-z

Internet

https://doi.org/10.1038/s41525-021-00263-z

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