Whole-exome sequencing refers to a gene sequencing technology that uses sequence capture technology to catch and enrich the Whole-exome DNA.The enriched target genomic DNA fragments can then be studied using the high-throughput sequencing technologies.Compared with the traditional sequencing technology,the whole-exome sequencing has been porved to be time-saving,costeffective,and with high-throughput.It becomes an important technology for researchers to study the genes related to human disease.The goal of this review is to outline the principle of whole-exome sequencing and its implication in the diagnosis and study of hereditary diseases.