2017 Fiscal Year Final Research Report
Investigation of disease-causing variants of Long QT syndrome using whole exome sequencing
Project/Area Number |
16K19068
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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
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Research Institution | National Center for Geriatrics and Gerontology (2017) Tokyo Medical and Dental University (2016) |
Principal Investigator |
SHIGEMIZU Daichi 国立研究開発法人国立長寿医療研究センター, メディカルゲノムセンター, ユニット長 (70617464)
|
Project Period (FY) |
2016-04-01 – 2018-03-31
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Keywords | 中間サイズインデル / 次世代シークエンサー / エクソーム解析 / QT延長症候群 |
Outline of Final Research Achievements |
I developed a new method that detects InterMediate-Size indels using a combination of soft-clipped fragments realignment and de novo assembly of unmapped reads (IMSindel). I suggest that this methodology will contribute to the discovery of intermediate-size indels associated with long QT syndrome as well as the other diseases.
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Free Research Field |
遺伝統計学
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