2012 Fiscal Year Final Research Report
Analysis of pancreatitis-associated genetic disorders by whole exome sequencing
| Project/Area Number |
23659392
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Gastroenterology
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| Research Institution | Tohoku University |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
MASAMUNE Atsushi 東北大学, 大学院・医学系研究科, 准教授 (90312579)
KUME Kiyoshi 東北大学, 病院, 助教 (30431563)
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| Project Period (FY) |
2011 – 2012
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| Keywords | 胆道学 / 膵臓学 |
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| Research Abstract |
We performed whole exome sequencing using a next-generation sequencer. We extracted 1348 candidate genetic variants and analyzed their locations and functions. We also examined the distribution of mutations in the chymotrypsin C gene, and identified 5 novel mutations.
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