Meienberg, Janine; Bruggmann, Rémy; Oexle, Konrad; Matyas, Gabor (2016). Clinical sequencing: is WGS the better WES? Human genetics, 135(3), pp. 359-362. Springer 10.1007/s00439-015-1631-9
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Meienberg2016_Article_ClinicalSequencingIsWGSTheBett.pdf - Published Version Available under License Creative Commons: Attribution (CC-BY). Download (400kB) | Preview |
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.
Item Type: |
Journal Article (Original Article) |
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Division/Institute: |
08 Faculty of Science > Department of Biology > Bioinformatics and Computational Biology > Bioinformatics 08 Faculty of Science > Department of Biology > Bioinformatics and Computational Biology > Computational Biology 08 Faculty of Science > Department of Biology > Bioinformatics and Computational Biology |
UniBE Contributor: |
Bruggmann, Rémy |
ISSN: |
0340-6717 |
Publisher: |
Springer |
Language: |
English |
Submitter: |
Rémy Bruggmann |
Date Deposited: |
31 Dec 2019 09:26 |
Last Modified: |
04 May 2023 14:16 |
Publisher DOI: |
10.1007/s00439-015-1631-9 |
PubMed ID: |
26742503 |
BORIS DOI: |
10.7892/boris.89007 |
URI: |
https://boris.unibe.ch/id/eprint/89007 |
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