Clinical sequencing: is WGS the better WES?
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BORIS DOI
Date of Publication
March 2016
Publication Type
Article
Division/Institute
Contributor
Meienberg, Janine | |
Oexle, Konrad | |
Matyas, Gabor |
Series
Human genetics
ISSN or ISBN (if monograph)
0340-6717
Publisher
Springer
Language
English
Publisher DOI
PubMed ID
26742503
Description
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.
File(s)
File | File Type | Format | Size | License | Publisher/Copright statement | Content | |
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Meienberg2016_Article_ClinicalSequencingIsWGSTheBett.pdf | text | Adobe PDF | 390.78 KB | Attribution (CC BY 4.0) | published |