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Updated: Mar 22, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
A lot of nexts: Next-generation sequencing, databases, and neurologists
1Department of Neurology, University of Utah, Salt Lake City.
Abstract:
Whole-exome sequencing (WES) was featured prominently in the first issue of Neurology® Genetics,(1) and this technology again contributed to identification of a homozygous AMPD2 mutation as the cause of a neurodevelopmental syndrome published in this issue.(2) A different approach to analysis of a large number of exons is described by Tian and collaborators(3) and discussed by Bönnemann and colleagues,(4) both in this issue.
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