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Springer, Human Genetics, 3(135), p. 359-362, 2016

DOI: 10.1007/s00439-015-1631-9

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Clinical sequencing: is WGS the better WES?

Journal article published in 2016 by Janine Meienberg, Rémy Bruggmann ORCID, Konrad Oexle, Gabor Matyas
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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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.