Targeted resequencing by massively parallel sequencing, which includes whole-exome sequencing (WES), is a well-established and cost-effective means to analyse specific regions of a genome. Reducing the target size and focusing on the regions most likely to yield relevant data enhances sensitivity through increasing depth of coverage and therefore the likelihood of new discoveries.
The protein coding, or exonic regions, constitute ~1.5% of the human genome. An estimated 85% of known variations/mutations underlying disease-related traits occur in the exons of the genome. Exome sequencing provides a cost-effective alternative to whole genome sequencing and has been instrumental in applications such as:
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