2013 Fiscal Year Final Research Report
Integrated analysis of Exome-seq and RNA-seq for genetic diseases
| Project/Area Number |
24689044
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| Research Category |
Grant-in-Aid for Young Scientists (A)
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| Allocation Type | Partial Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Saitama Medical University |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2014-03-31
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| Keywords | 遺伝医学 / バイオインフォマティクス / 高速シーケンサー |
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| Research Abstract |
In this study, we have developed RNA and DNA integrated analysis for unresolved genetic disease patients. At first, we constructed and tested cDNA-based exome capture libraries for better variant calling on RNA sequence data. Then, we identified 290 candidate genes for allele-specific gene expression. There were 23 known imprinted genes. In addition, like MRPL43 or ERAP2, several known allele-specific expressed genes were also detected. Finally, to examine the possibility of f contributing to the development of the disease, we conducted to screen heterozygous harmful variants of these candidate genes in clinical samples.
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