Exome sequencing (also known as
Whole Exome Sequencing or
WES) is a technique for sequencing all the protein-coding
genes in a genome (known as the
exome). It consists of first selecting only the subset of DNA that encodes proteins (known as
exons), and then sequencing that DNA using any high throughput
DNA sequencing technology. There are 180,000 exons, which constitute about 1% of the human genome, or approximately 30 million base pairs. The goal of this approach is to identify genetic variation that is responsible for both
Mendelian and common diseases such as
Miller syndrome and
Alzheimer's disease without the high costs associated with
whole-genome sequencing.