Research results using samples and information from BioBank Japan (BBJ) have been published in the online edition of the international scientific journal Science Advances.

A joint research group led by Team Leader Chikashi Terao of RIKEN and Professor Koichi Matsuda of the Institute of Medical Science, University of Tokyo (director of BioBank Japan (BBJ)) analysed a high-depth whole-genome sequencing dataset comprising 3256 individuals from across Japan provided by the BBJ. As a result, they identified three ancestral components of Japanese (Jomon ancestry, Kansai ancestry and Tohoku ancestry) . Furthermore, they discovered 44 archaic segments linked to complex traits, including a Neanderthals and Denisovans-derived segment, the ancient type of humans most closely related to the present humans (Homo sapiens), and diseases, as well as several regions affected by natural selection.

The results of this research are expected to deepen our understanding of the genetic characteristics and origins of the Japanese population, and furthermore, they will form the basis for personalised medicine and drug discovery research.

Original paper

Decoding triancestral origins, archaic introgression, and natural selection in the Japanese population by whole-genome sequencing
https://www.nature.com/articles/s41588-024-01913-5
Published date: 17 April 2024

Press release aritcle from Institute of Medical Science, the University of Tokyo (Japanese only)

https://www.ims.u-tokyo.ac.jp/imsut/jp/about/press/page_00280.html