Work

Clinical sequencing: is WGS the better WES?

Year: 2016

Type: article

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.

Source: Human Genetics

DOI: 10.1007/s00439-015-1631-9

Authors: Janine Meienberg, Rémy Bruggmann, Konrad Oexle, Gabor Matyas

Institutions: Foundation for People with Rare Diseases, University of Bern, SIB Swiss Institute of Bioinformatics, University of Zurich

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,690