4.6 Article

Clinical sequencing: is WGS the better WES?

期刊

HUMAN GENETICS
卷 135, 期 3, 页码 359-362

出版社

SPRINGER
DOI: 10.1007/s00439-015-1631-9

关键词

-

资金

  1. Bangerter-Rhyner-Stiftung
  2. COFRA Foundation
  3. Ebnet-Stiftung
  4. Gebauer Stiftung
  5. Hirzel-Callegari Stiftung
  6. Spendenstiftung Bank Vontobel
  7. Stiftung FERNE HORIZONTE

向作者/读者索取更多资源

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.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.6
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据