2014 Fiscal Year Final Research Report
Analysis of chromosomal structural abnormalities by next generation sequencing
| Project/Area Number |
24249019
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| Research Category |
Grant-in-Aid for Scientific Research (A)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | Yokohama City University |
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Principal Investigator |
MATSUMOTO Naomichi 横浜市立大学, 医学(系)研究科(研究院), 教授 (80325638)
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Keywords | 次世代シーケンス / 染色体構造異常 / 全ゲノムシーケンス / 塩基配列決定 |
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| Outline of Final Research Achievements |
Shallow (<20x) whole genome sequencing by next generation sequencing was used to evaluate whether this technique is useful for detecting breakpoints of chromosomal structural abnormalities (CSA). Among 10 patients with known CSA, breakpoints were determined in 15 out 18 translocations (83%) and 4 out of 4 inversions (100%) using BreakDancer and IGV. Therefore shallow whole genome sequencing is quite useful for determination of chromosomal structural variations at the nuceotide level with the knowledge of results of conventional chromosomal analyses.
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| Free Research Field |
人類遺伝学
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