Comprehensive whole genome sequence analysis using a long read sequencer for delineating molecular mechanism of neurological diseases
Project/Area Number |
15K20941
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Human genetics
Neurology
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Research Institution | The University of Tokyo |
Principal Investigator |
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Project Period (FY) |
2015-04-01 – 2017-03-31
|
Project Status |
Completed (Fiscal Year 2016)
|
Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2016: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2015: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
|
Keywords | ロングリードシーケンス / 全ゲノム配列解析 / 神経変性疾患 / ハプロタイプ解析 |
Outline of Final Research Achievements |
Several kinds of mutations including rearrangements and repeat expansions as well as single nucleotide variants and short insertion/deletions cause neurodegenerative and neuromuscular disorders. Usual exome sequencing, however, overlook some of the mutations. To overcome this, I performed whole genome sequencing using a short read sequencer and a long read sequencer. Some of the mutations can only be delineated by the long read sequencer, indicating the importance of long read sequencing. This strategy will help us to understand the molecular mechanism of neurodegenerative disorders.
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Report
(3 results)
Research Products
(5 results)