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Clinical sequencing: is WGS the better WES?

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.

SUBMITTER: Meienberg J

PROVIDER: S-EPMC4757617 | biostudies-other | 2016 Mar

REPOSITORIES: biostudies-other

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Clinical sequencing: is WGS the better WES?

Meienberg Janine J Bruggmann Rémy R Oexle Konrad K Matyas Gabor G

Human genetics 20160107 3

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 clin ...[more]

PMID: 26742503

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