2016 Fiscal Year Final Research Report
Comprehensive whole genome sequence analysis using a long read sequencer for delineating molecular mechanism of neurological diseases
| Project/Area Number |
15K20941
|
|---|
| Research Category |
Grant-in-Aid for Young Scientists (B)
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Human genetics
Neurology
|
|---|
| Research Institution | The University of Tokyo |
|---|
Principal Investigator |
|
|---|
| Project Period (FY) |
2015-04-01 – 2017-03-31
|
| 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 |
|---|
| 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.
|
| Free Research Field |
神経遺伝学、神経内科学
|
