Clinical sequencing: is WGS the better WES?

被引:0
|
作者
Janine Meienberg
Rémy Bruggmann
Konrad Oexle
Gabor Matyas
机构
[1] Foundation for People with Rare Diseases,Center for Cardiovascular Genetics and Gene Diagnostics
[2] University of Berne,Interfaculty Bioinformatics Unit and Swiss Institute of Bioinformatics
[3] University of Zurich,Zurich Center for Integrative Human Physiology
来源
Human Genetics | 2016年 / 135卷
关键词
Whole Genome Sequencing; Gene Panel; Whole Exome Sequencing; Uniform Coverage; Sequencing Cost;
D O I
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中图分类号
学科分类号
摘要
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.
引用
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页码:359 / 362
页数:3
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