Dr. Akihiro Fujimoto
Dr.Akihiro Fujimoto is an associate professor of Department of Drug Discovery Medicine, Graduate School of Medicine, Kyoto University. He received his Ph.D from the University of Tokyo in 2008. He joined RIKEN institute and carried out analysis of next generation sequence data. He analyzed the first Japanese whole genome and liver cancer genomes. His current interests are identification of genetic variations and somatic mutations, and interpretation of their functional impacts.
Department of Drug Discovery Medicine, Graduate School of Medicine, Kyoto University
Medical Innovation Center, 53 Shogoin-Kawahara-cho, Sakyo-ku, Kyoto, 606-8507, Japan
March, 2008 Ph. D., Department of Human Genetics, University of Tokyo
March, 2005 M. S., Department of Biological Science, Kyushu University
March, 2003 B. A., Department of Biological Science, Kyushu University
2019- Department of Human Genetics, Graduate School of Medicine, The University of Tokyo (Professor)
2016-2019 Department of Drug Discovery Medicine, Graduate School of Medicine, Kyoto University (Associate Professor)
2014-2016 Centre for Integrative Medical Sciences, RIKEN (Deputy Team Leader)
2013-2014 Centre for Integrative Medical Sciences, RIKEN (Senior Researcher)
2011-2013 Center for Genomic Medicine, RIKEN (Senior Researcher)
2010-2011 Center for Genomic Medicine, RIKEN (Special Postdoctoral Researcher)
2008-2010 Data Analysis Fusion Team, Computational Science Research Program, RIKEN (Special Postdoctoral Researcher)
Identification of structural variations and analysis of their functional roles
Structural variations (insertions, deletions, copy number variations, inversions and translocations) are functionally important types of genetic variations. Structural variations can influence structure, copy number and expression level of genes. However, identification and interpretation of their functional roles are still difficult tasks in genetics studies. We consider that there are large numbers of structural variations in the human and cancer genomes, but most of them have not been identified. We developed methods to detect structural variations and analyzed their functional impacts.
In this presentation, we would like to talk about analysis of structural variations in 300 liver cancer genomes, intermediate-size deletions in a Japanese population, and application of a long-reads sequencing technology to detect structural variations. Analysis of the cancer genomes showed that large number of structural variations exists in the cancer genomes and they can influence the gene expression level. Analysis of intermediate-size deletions revealed previously unreported deletions in a Japanese population and a part of them were associated with gene expression level. We also developed a method to detect structural variations by analyzing data from a long-reads sequencing technology. The analysis detected 2-3 times larger number of structural variations than those from a current short-reads sequencing technology.
We consider that our study can contribute to the understanding of the landscape of structural variations in the human genome, and interpretation of the importance of them.