2015 Fiscal Year Final Research Report
Targeted exome sequencing for the genotyping of inherited retinal dystrophy
| Project/Area Number |
26861445
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Ophthalmology
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| Research Institution | Kyoto University |
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Principal Investigator |
Ogino Ken 京都大学, 医学(系)研究科(研究院), 助教 (70622629)
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Keywords | 網膜色素変性 / 錐体-桿体ジストロフィー / 遺伝子検査 / 次世代シークエンサー |
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| Outline of Final Research Achievements |
We achieved the genotype screening in a Japanese cohort of inherited retinal diseases using next generation sequencing. The results of screening were analyzed with the result of the clinical examination. The clinical features in retinitis pigmentosa were overlapped in many genes.
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| Free Research Field |
眼科学
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