Exploring informatics for brain diseases based on personal genomics

2014 Fiscal Year Final Research Report

• Project Area: Personal genome-based initiatives toward understanding bran diseases
• Project/Area Number: 22129008
• 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: MORISHITA Shinichi 東京大学, 新領域創成科学研究科, 教授 (90292854)
• Co-Investigator(Kenkyū-buntansha): KASAHARA Masahiro 東京大学, 大学院新領域創成科学研究科, 講師 (60376605)
• Project Period (FY): 2010-04-01 – 2015-03-31
• Keywords: 全ゲノム解析 / エキソーム解析 / 脳疾患 / 家系解析 / バイオインフォマティクス / アルゴリズム / 構造変異 / 異常リピート配列検出

Outline of Final Research Achievements

Disease-associated genetic variations in the human genome are divergent, including single nucleotide polymorphism (SNP) and short insertions/deletions as well as large-scale variations such as large deletions, long transposons, intra-chromosomal inversions, and chromosomal rearrangements. Comprehensive understanding of these variations has been challenging because an enormous volume of information had to be collected and classified properly. In this study, we utilize two types of high-throughput DNA sequencer of complementary characteristics; namely, one type outputs highly accurate but short DNA reads, while the other is able to generate extremely long reads of average length > 10,000 base pairs with moderate base accuracy. We developed a suite of algorithms that combined short and long reads to uncover large-scale structural variations. With these methods, we were able to detect a number of structural variations specific to brain diseases.

Free Research Field

脳疾患　人類遺伝学　ゲノムサイエンス　バイオインフォマティクス　アルゴリズム