Novel bioinformatic developments for exome sequencing.
Novel bioinformatic developments for exome sequencing.
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DOI：
10.1007/s00439-016-1658-6
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发表时间：
2016-06
期刊：
影响因子：
5.3
通讯作者：
Gilissen C
中科院分区：
文献类型：
--
作者：
Lelieveld SH;Veltman JA;Gilissen C
随着下一代测序技术的广泛采用和每个碱基成本的快速下降，外显子组测序已成为研究和诊断基因实验曲目中的标准。虽然生物信息学现在为外显子组测序数据的分析提供了标准的解决方案，但许多挑战仍然存在；特别是现在外显子组数据的生成规模越来越大，这给如何有效地存储、分析和解释这种规模的外显子组数据带来了新的挑战。本文综述了外显子组测序生物信息学研究的最新进展及其发展方向。随着这些进展，外显子组测序正在为下一个重大挑战——全基因组测序的应用铺平道路。
With the widespread adoption of next generation sequencing technologies by the genetics community and the rapid decrease in costs per base, exome sequencing has become a standard within the repertoire of genetic experiments for both research and diagnostics. Although bioinformatics now offers standard solutions for the analysis of exome sequencing data, many challenges still remain; especially the increasing scale at which exome data are now being generated has given rise to novel challenges in how to efficiently store, analyze and interpret exome data of this magnitude. In this review we discuss some of the recent developments in bioinformatics for exome sequencing and the directions that this is taking us to. With these developments, exome sequencing is paving the way for the next big challenge, the application of whole genome sequencing.