Whole exome sequencing in inborn errors of immunity: use the power but mind the limits

Next-generation sequencing, especially whole exome sequencing (WES), has revolutionized the molecular diagnosis of inborn errors of immunity. This review summarizes the generation and analysis of next-generation sequencing data. The focus is on prioritizing strategies for unveiling the potential dis...

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Bibliographic Details
Published inCurrent opinion in allergy and clinical immunology Vol. 17; no. 6; p. 421
Main Authors Bucciol, Giorgia, Van Nieuwenhove, Erika, Moens, Leen, Itan, Yuval, Meyts, Isabelle
Format Journal Article
LanguageEnglish
Published United States 01.12.2017
Subjects
DNA Mutational Analysis - methods
Exome - genetics
Genome, Human
High-Throughput Nucleotide Sequencing
Humans
Immunity - genetics
Infant, Newborn
Neonatal Screening
Polymorphism, Single Nucleotide
Whole Exome Sequencing - methods
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Summary:Next-generation sequencing, especially whole exome sequencing (WES), has revolutionized the molecular diagnosis of inborn errors of immunity. This review summarizes the generation and analysis of next-generation sequencing data. The focus is on prioritizing strategies for unveiling the potential disease-causing variant. We also highlighted oversights and imperfections of WES and targeted panel sequencing, as well as the need for functional validation. The information is crucial for a judicious use of WES by researchers, but even more so by the clinical immunologist.
ISSN:1473-6322
DOI:10.1097/ACI.0000000000000398