elucidation of mechanisms of brain diseases based on personal genome information

2014 Fiscal Year Final Research Report

• Project Area: Personal genome-based initiatives toward understanding bran diseases
• Project/Area Number: 22129001
• Research Category: Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
• Allocation Type: Single-year Grants
• Review Section: Biological Sciences
• Research Institution: The University of Tokyo
• Principal Investigator: TSUJI Shoji 東京大学, 医学部附属病院, 教授 (70150612)
• Co-Investigator(Kenkyū-buntansha): TOYODA Atsushi 国立遺伝学研究所, 特任准教授 (10267495) ; MORISHITA Shinichi 東京大学, 大学院新領域創成科学研究科, 教授 (90292854)
• Project Period (FY): 2010-04-01 – 2015-03-31
• Keywords: ゲノム / 個人ゲノム / 脳疾患 / インフォマティクス / シーケンサー

Outline of Final Research Achievements

We introduced next generation sequencers, and developed various tools and algorithms for genome informatics to analyze data generated by next generation sequencers. These facilities and genome informatics are shared by the researchers in this research project.To establish reference genome sequence of Japanese genome, we developed a new algorithm employing long reads obtained using the Pacific Biosciences sequencer along with error correction using short reads obtained using HiSeq sequencers. This algorithm facilitated detection of structural variations. To detect expanded short tandem repeats that are frequently associated with neurodegenerative diseases, a new algorithm to detect expanded short tandem repeats was debeloped, which was shared by the researchers in this research project.

Free Research Field

分子遺伝学，神経内科学