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

BACKGROUND: Knowledge 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. METHODS: We included patients monitored at the Department of Infectious Dis...

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Detalles Bibliográficos
Autores principales: Mørup, Sara Bohnstedt, Nazaryan-Petersen, Lusine, Gabrielaite, Migle, Reekie, Joanne, Marquart, Hanne V., Hartling, Hans Jakob, Marvig, Rasmus L., Katzenstein, Terese L., Masmas, Tania N., Lundgren, Jens, Murray, Daniel D., Helleberg, Marie, Borgwardt, Line
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302041/
https://www.ncbi.nlm.nih.gov/pubmed/35874679
http://dx.doi.org/10.3389/fimmu.2022.906328

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