Exome sequencing: an efficient strategy for identifying the causative genes of monogenic disorders / 中华医学遗传学杂志

ABSTRACT

The development of new generation sequencing technologies has brought new opportunities for the study of diseases. Exome sequencing has shown to be an effective, rapid, high performance technique that has already been used in research of inherited diseases such as monogenic disorders. It has already been approved by scientists in the field of monogenic disorder study, and will become widely used. This approach will accelerate discovery of the causative genes of Mendelian disorders. This article reviews some recent applications of exome sequencing in the study of gene-related diseases.