Clinical sequencing: is WGS the better WES?

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) wit...

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Bibliographic Details
Published inHuman genetics Vol. 135; no. 3; pp. 359 - 362
Main Authors Meienberg, Janine, Bruggmann, Rémy, Oexle, Konrad, Matyas, Gabor
Format Journal Article
LanguageEnglish
Published Berlin/Heidelberg Springer Berlin Heidelberg 01.03.2016
Springer
Springer Nature B.V
Subjects
Bioinformatics
Biomedical and Life Sciences
Biomedicine
DNA sequencing
Exome
Exons
Female
Gene Function
Genes
Genome, Human
Genomes
Genomics
High-Throughput Nucleotide Sequencing
Human Genetics
Humans
Metabolic Diseases
Molecular Medicine
Mutation
Nucleotide sequencing
Open Reading Frames
Sequence Analysis, DNA
Short Report
Switzerland
Uniform Coverage
Gene Panel
Sequencing Cost
Whole Genome Sequencing
Whole Exome Sequencing
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Summary: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/s00439-015-1631-9