TY - JOUR
T1 - Whole exome sequencing in inborn errors of immunity
T2 - Use the power but mind the limits
AU - Bucciol, Giorgia
AU - Van Nieuwenhove, Erika
AU - Moens, Leen
AU - Itan, Yuval
AU - Meyts, Isabelle
N1 - Funding Information:
I.M. is supported by a KOF grant of the KU Leuven, by the Research Foundation – Flanders (FWO, grant number G0C8517N), and by the Jeffrey Modell Foundation. G.B. is supported by the Research Foundation Flanders (FWO, grant number ZKD2020–01-W01). L.M. is supported by the CSL Behring Chair in Primary Immunodeficiencies. E.V.N. is supported by the Research Foundation Flanders (FWO, doctoral grant strategic basic research number 1S22716N).
Publisher Copyright:
© 2017 Wolters Kluwer Health, Inc. All rights reserved.
PY - 2017/12/1
Y1 - 2017/12/1
N2 - 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.
AB - 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.
KW - inborn errors of immunity
KW - next-generation sequencing
KW - primary immunodeficiency
KW - whole exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=85033783262&partnerID=8YFLogxK
U2 - 10.1097/ACI.0000000000000398
DO - 10.1097/ACI.0000000000000398
M3 - Review article
C2 - 28938278
AN - SCOPUS:85033783262
SN - 1528-4050
VL - 17
SP - 421
EP - 430
JO - Current Opinion in Allergy and Clinical Immunology
JF - Current Opinion in Allergy and Clinical Immunology
IS - 6
ER -