Study on Next-Generation Technologies for Personal Genome Analysis

2014 Fiscal Year Final Research Report

• Project Area: Personal genome-based initiatives toward understanding bran diseases
• Project/Area Number: 22129003
• 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: National Institute of Genetics
• Principal Investigator: TOYODA Atsushi 国立遺伝学研究所, 生命情報研究センター, 特任准教授 (10267495)
• Project Period (FY): 2010-04-01 – 2015-03-31
• Keywords: パーソナルゲノム / 次世代型シーケンサー

Outline of Final Research Achievements

For the past ten years, next generation sequencing has advanced rapidly and is great potential means in the treatment and prevention of disease. Therefore, in this study, we developed sequencing technologies for personal genome analysis including brain diseases (Alzheimer disease, Parkinson disease, amyotrophic lateral sclerosis, spinocerebellar degeneration, and schizophrenia) and Japanese genetic variants were detected with the Illumina short reads. The novel mutation in ERBB4 gene was identified from a Japanese family affected by late-onset, autosomal-dominant amyotrophic lateral sclerosis using a whole-genome sequencing and parametric linkage analysis. Furthermore, to detect structural variants with high accuracy, such as copy number variation and large insertion/deletion, we have developed sample preparation and information analysis for the PacBio long reads.

Free Research Field

ゲノム科学