| Budget Amount *help |
¥126,620,000 (Direct Cost: ¥97,400,000、Indirect Cost: ¥29,220,000)
Fiscal Year 2014: ¥23,010,000 (Direct Cost: ¥17,700,000、Indirect Cost: ¥5,310,000)
Fiscal Year 2013: ¥24,310,000 (Direct Cost: ¥18,700,000、Indirect Cost: ¥5,610,000)
Fiscal Year 2012: ¥25,480,000 (Direct Cost: ¥19,600,000、Indirect Cost: ¥5,880,000)
Fiscal Year 2011: ¥25,220,000 (Direct Cost: ¥19,400,000、Indirect Cost: ¥5,820,000)
Fiscal Year 2010: ¥28,600,000 (Direct Cost: ¥22,000,000、Indirect Cost: ¥6,600,000)
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| 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.
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