Abstract: Recently genetic testing has played an increasingly substantial role in the diagnosis of clinical disease as well as basic science research. Owing to the application of next-generation sequencing (NGS) technology, more and more pathogenic genes are found, which tremendously improve both clinical practice and science research. This article therefore aimes to highlight several genetic sequencing techniques that are commonly used, to compare their advantages and disadvantages in both disease diagnosis and science research, and to facilitate postgraduate students and clinicians in their clinical practice and scientific activities.