Approved research

Development and application of bioinformatics methods to better understand the genetic architecture and components of diseases and complex traits disorders across human populations

Lay summary

Although the conventional approaches that have been used since the beginning of the 21st century to analyze genetic information have led to the identification of countless disease genes, these approaches primarily focus on simple genetic variations. In this project, we aim to investigate the more complex aspects of our genome, for instance genetic architecture and structural variation, by developing and applying innovative statistical methods. We intend to examine the differences between human populations, e.g. European and East Asian populations, to better understand how they affect the development of observable characteristics. Concretely, by using the UK Biobank resource as a comparison dataset for the data that we have gathered in Japan, we aim to: 1) improve the accuracy and/or efficiency of the statistical methods that we are currently developing by evaluating them across populations, 2) use the UK Biobank data as a replication dataset for the identification of new genetic variants, 3) identify the differences in genetic architecture between the UK Biobank participants and the Japanese population.