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  3. Clinical sequencing: is WGS the better WES?
 

Clinical sequencing: is WGS the better WES?

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BORIS DOI
10.7892/boris.89007
Date of Publication
March 2016
Publication Type
Article
Division/Institute

Bioinformatik und com...

Contributor
Meienberg, Janine
Bruggmann, Rémy
Bioinformatik und computerbasierte Biologie
Oexle, Konrad
Matyas, Gabor
Series
Human genetics
ISSN or ISBN (if monograph)
0340-6717
Publisher
Springer
Language
English
Publisher DOI
10.1007/s00439-015-1631-9
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.
Handle
https://boris-portal.unibe.ch/handle/20.500.12422/145539
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Meienberg2016_Article_ClinicalSequencingIsWGSTheBett.pdftextAdobe PDF390.78 KBAttribution (CC BY 4.0)publishedOpen
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