Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling

BackgroundKnowledge of the genetic variation underlying Primary Immune Deficiency (PID) is increasing. Reanalysis of genome-wide sequencing data from undiagnosed patients with suspected PID may improve the diagnostic rate.MethodsWe included patients monitored at the Department of Infectious Diseases...

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Main Authors: Sara Bohnstedt Mørup, Lusine Nazaryan-Petersen, Migle Gabrielaite, Joanne Reekie, Hanne V. Marquart, Hans Jakob Hartling, Rasmus L. Marvig, Terese L. Katzenstein, Tania N. Masmas, Jens Lundgren, Daniel D. Murray, Marie Helleberg, Line Borgwardt
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Immunology
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Online Access:https://www.frontiersin.org/articles/10.3389/fimmu.2022.906328/full