Abstract：Due to significant advances in DNA sequencing technology, human genome sequencing is becoming a powerful tool in recent medical practice. The 1000 Genomes Project and ENCODE Project have provided a comprehensive variation and functional annotation of human genome, and such information will greatly benefit the medical application of sequencing in the long run. Nowadays, the sequencing approach is very successful in identifying the unknown mutation that leads to rare Mendelian diseases. In addition, sequencing cancer genomes comprehensively characterizes genome variations and leads to a better classification and more targeted treatment. The application of genome sequencing in common diseases and the bacteria/virus infection is still limited but promising. More importantly, the genome information not only facilitates the treatment of disease, but also provides guidance on disease prevention such as fetus genetic screening. The whole society still needs to overcome the challenges such as cost, high demand of computational power to process sequencing data and immature communication channel to take full advantage of sequencing in clinical setting. However, these issues are likely to be resolved by new technology, cloud computing solution and better education in the near future. This review focused on how recent applications of genome sequencing lead to better disease treatment and prevention.
