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Identification and elucidation of structural variations in human genome

Research Project

Project/Area Number 23659180
Research Category

Grant-in-Aid for Challenging Exploratory Research

Allocation TypeMulti-year Fund
Research Field Human genetics
Research InstitutionThe University of Tokyo

Principal Investigator

MABUCHI AKIHIKO  東京大学, 医学(系)研究科(研究院), 准教授 (80312312)

Co-Investigator(Kenkyū-buntansha) MIYAGAWA Taku  東京大学, 大学院・医学系研究科, 助教 (20512263)
Project Period (FY) 2011 – 2012
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2012: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2011: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
Keywordsゲノム医学
Research Abstract

With the progress of recent studies in human genetics, methods to identify causing or susceptible variations have been established. Especially, many genes and polymorphisms which associated with diseases or phenotypes have been identified. Much of those studies were focused on single nucleotides polymorphisms, which are most frequent variation in human genome. However, other type of variations including copy number variations might associate with phenotypes. Here we focus on the structural variation, especially inversions and translocations and aimed to identify those variations.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report

URL: 

Published: 2011-08-05   Modified: 2019-07-29  

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