Fujimoto, Akihiro

(~June 30, 2019)


My research forces on identification of mutation/polymorphism and understanding of their biological significance. I received Ph.D. from the University of Tokyo in 2008, where I worked to reveal genes that were related to human adaptations (1). Then, I joined a cancer genome project in RIKEN and analyzed whole genome sequencing (WGS) data. We constructed a mutation calling pipeline and statistical methods for WGS (2,3,4,5,6), and developed a method for variant calling and driver gene identification in cancer (4,7). In addition to these projects, I have performed analyses of third-generation sequencing data (long read sequencer) to analyze the cancer transcriptome and germline variation in the human population.

Fujimoto, Akihiro

  1. Fujimoto et al. (2008) A scan for genetic determinants of human hair morphology: EDAR is associated with Asian hair thickness. Hum Mol Genet 17: 835-843
  2. Fujimoto et al. (2010) Whole-genome sequencing and comprehensive variant analysis of a Japanese individual using massively parallel sequencing. Nat Genet 42: 931–936
  3. Fujimoto et al. (2012) Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators. Nat Genet 44: 760-76
  4. Shigemizu et al. (2013) A practical method to detect SNVs and indels from whole genome and exome sequencing data. Sci Rep 3: 2161
  5. Fujimoto et al. (2015) Whole-genome mutational landscape of liver cancers displaying biliary phenotype reveals hepatitis impact and molecular diversity. Nat Comms 6, Article number: 6120
  6. Fujimoto et al. (2016) Whole genome mutational landscape and characterization of non-coding and structural mutations in liver cancer. Nat Genet 48: 500-509
  7. Fujimoto et al. (2016) Systematic analysis of mutation distribution in three dimensional protein structures identifies cancer driver genes. Sci Rep 6, Article number: 26483


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