Diabetes is a metabolic diseases characterized by hyperglycemia caused by defective insulin secretion or impaired biological effects, which can lead to chronic damage and dysfunction of various tissues, especially eyes, kidneys, heart, blood vessels
and nerves. Among the complex pathogenesis of diabetes, genetic factors play an essentical and irreplaceable role. Whole-exome
sequencing (WES) is a high throughput sequencing method for genome analysis, which captures and enriches the exon region DNA of the whole genome for sequencing by the sequence capture technology. Based on its advantages of high specificity, high accuracy and high coverage, whole-exome sequencing has a great impact on the identification of susceptibility genes for complex diseases such as diabetes and obesity. This paper reviews the application of whole-exome sequencing in screening genetic susceptibility genes and coding variations of diabetes mellitus.