Clinical whole exome sequencing

Exons occupy about 1% of the human genome and contain important information for protein synthesis. The variation of its coding region is thought to be closely related to single gene genetic diseases and some complex diseases. However, traditional genetic diagnosis methods (PCR, Sanger sequencing, panel, single gene sequencing, etc.) can not cover all cases of single gene disease, especially for patients with highly suspected genetic diseases but not specific clinical phenotypes. This makes the whole exome sequencing become the most concerned application mode of high-throughput sequencing.