Whole exome sequencing (WES)

The protein coding part of the human genome accounts for around 1 % of the genome and consists of around 180,000 exons covering an area of 30 megabases (Mb) [Ng et al., 2009]. By targeting sequencing to only the protein coding parts of the genome, exome sequencing is a cost efficient way of generating sequencing data that is believed to harbor the vast majority of the disease-causing mutations [Choi et al., 2009].