Current Opinion in Allergy & Clinical Immunology: Post Author Corrections: September 21, 2017 – doi: 10.1097/ACI.0000000000000398
Bucciol, Giorgia; Van Nieuwenhove, Erika; Moens, Leen; Itan, Yuval; Meyts, Isabelle
Purpose of review: 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.
Recent findings: 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.
Summary: The information is crucial for a judicious use of WES by researchers, but even more so by the clinical immunologist.
Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.
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