Clinical sequencing: is WGS the better WES?
Clinical sequencing: is WGS the better WES?
复制标题
DOI：
10.1007/s00439-015-1631-9
复制
发表时间：
2016-03
期刊：
影响因子：
5.3
通讯作者：
Matyas G
中科院分区：
文献类型：
--
作者：
Meienberg J;Bruggmann R;Oexle K;Matyas G
目前的临床下一代测序是通过使用基因组和外显子组分析来完成的，这两种分析都涉及靶区域的选择性捕获。然而，捕获在充分覆盖编码外显子，特别是富含GC的区域方面具有局限性。我们比较了全外显子组测序（WES）与最新的无PCR全基因组测序（WGS），表明只有后者能够提供迄今为止前所未有的基因组编码区的完全覆盖。因此，从临床/技术的角度来看，WGS是更好的WES，使得捕获对于孟德尔疾病的最全面的基因组测试不再是必需的。本文的在线版本（doi：10.1007/s 00439 -015-1631-9）包含补充材料，可供授权用户使用。
Current clinical next-generation sequencing is done by using gene panels and exome analysis, both of which involve selective capturing of target regions. However, capturing has limitations in sufficiently covering coding exons, especially GC-rich regions. We compared whole exome sequencing (WES) with the most recent PCR-free whole genome sequencing (WGS), showing that only the latter is able to provide hitherto unprecedented complete coverage of the coding region of the genome. Thus, from a clinical/technical point of view, WGS is the better WES so that capturing is no longer necessary for the most comprehensive genomic testing of Mendelian disorders. The online version of this article (doi:10.1007/s00439-015-1631-9) contains supplementary material, which is available to authorized users.