Giorgia Bucciol1, Erika Van Nieuwenhove, Leen Moens, Yuval Itan, Isabelle Meyts. 1. aChildhood Immunology, Department of Microbiology and Immunology, KU Leuven, Belgium bLaboratory of Genetics of Autoimmunity, Department of Microbiology and Immunology, KU Leuven, Belgium cVIB Center for Brain and Disease Research, Leuven, Belgium dDepartment of Pediatrics, University Hospitals Leuven, Belgium eThe Charles Bronfman Institute of Personalized Medicine fDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.
Abstract
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.
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.
Authors: Margot A Cousin; Matthew J Smith; Ashley N Sigafoos; Jay J Jin; Marine I Murphree; Nicole J Boczek; Patrick R Blackburn; Gavin R Oliver; Ross A Aleff; Karl J Clark; Eric D Wieben; Avni Y Joshi; Pavel N Pichurin; Roshini S Abraham; Eric W Klee Journal: J Clin Immunol Date: 2018-04-18 Impact factor: 8.317