Division of Human Genetics • Inoue Group

Genomic medicine with next generation sequencing technology


Research Summary

Our research goal is to elucidate disease causalities and their patho-etiologies, and ultimately to develop therapeutic tool. With the advent of next generation sequencing technologies, it becomes very handy to identify causalities of monogenic diseases as well as complex diseases. With the vast of genomic information at hand, we will combine gene expression profiles of the responsible tissues together with clinical information to understand the global picture of diseases.

The basic unit of heredity as disease causality might well be the regulatory region and not only the gene. The integrated functional properties based on a Next generation sequencer will open the way to understand the disease mechanisms.


Nakaoka, H., Gurumurthy, A., Hayano, T., Ahmadloo, S., Omer ,W.H., Yoshihara, K., Yamamoto, A., Kurose K., Enomoto, T., Akira, S., Hosomichi, K., and Inoue, I. (2016). Allelic imbalance in regulation of ANRIL through chromatin interaction at 9p21 endometriosis risk locus. PLoS Genet 12, e1005893.

Tamura, R., Yoshihara, K., Yamawaki, K., Suda, K., Ishiguro, T., Adachi, S., Okuda, S., Inoue, I., Verhaak, R.G., and Enomoto, T. (2015). Novel kinase transcripts found in endometrial cancer. Sci Rep 5, 18657.

Yu, W., Zheng, H., Lin, W., Tajima, A., Zhang, Y., Zhang, X., Zhang, H., Wu, J., Han, D., Rahman, N.A., Korach, K.S., Gao G, F., Inoue, I., and Li, X. (2014). Estrogen promotes Leydig cell engulfment by macrophages in male infertility. J Clin Invest 124, 2709-2721.