很多“next”：下一代测序、数据库和神经科医生。
A lot of nexts: Next-generation sequencing, databases, and neurologists.
机构信息
Department of Neurology, University of Utah, Salt Lake City.
出版信息
Neurol Genet. 2015 Aug 20;1(2):e12. doi: 10.1212/NXG.0000000000000020. eCollection 2015 Aug.
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.
摘要
全外显子测序（WES）在《神经病学》遗传学第一期中占据重要地位，（1）该技术再次促成了本期中报道的一种神经发育综合征病因的确定，即 AMPD2 突变的纯合子。（2）田等人（3）在本期中描述了一种分析大量外显子的不同方法，并由 Bönnemann 等人（4）进行了讨论。
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Spotlight on the June 2015 issue.
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
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