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Hum Genet. 2016 Mar;135(3):359-62. doi: 10.1007/s00439-015-1631-9. Epub 2016 Jan 7.

Clinical sequencing: is WGS the better WES?

Author information

1
Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, 8952, Schlieren-Zurich, Switzerland.
2
Interfaculty Bioinformatics Unit and Swiss Institute of Bioinformatics, University of Berne, 3012, Berne, Switzerland.
3
Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, 8952, Schlieren-Zurich, Switzerland. matyas@genetikzentrum.ch.
4
Zurich Center for Integrative Human Physiology, University of Zurich, 8057, Zurich, Switzerland. matyas@genetikzentrum.ch.

Abstract

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.

PMID:
26742503
PMCID:
PMC4757617
DOI:
10.1007/s00439-015-1631-9
[Indexed for MEDLINE]
Free PMC Article

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