Whole Exome Sequencing for Rare Diseases

Exons refer to the coding regions of proteins and contain important information required by organisms to synthesize proteins. Although the sequence length of the human exon accounts for less than 2% of the genome, approximately 85% of disease-related variants are located in this region. Therefore, a genome analysis method that uses sequence capture technology to capture and enrich exon regions of the genome and then perform high-throughput sequencing, namely WES, is of great significance for the detection of causative genes of many rare diseases.

WES can comprehensively detect and analyze the information of about 20,000 genes in known coding gene exon regions. With the advantages of efficient and comprehensive detection, high diagnostic rate, and high-cost performance, WES plays an important role in the clinical diagnosis of rare genetic diseases, especially single-gene genetic diseases. In addition, WES can not only detect existing diseases, but also find the pathogenic genes or new mutation sites of unknown diseases through data reanalysis, which is of great significance in improving the diagnostic rate, discovering new genes, diagnosis of late-onset disease, and pharmacogenomics.