| Project/Area Number |
18K15305
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 50020:Tumor diagnostics and therapeutics-related
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| Research Institution | Tokyo Medical and Dental University |
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Principal Investigator |
Tanimoto Kousuke 東京医科歯科大学, 難治疾患研究所, 助教 (60611613)
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| Project Period (FY) |
2018-04-01 – 2020-03-31
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| Project Status |
Completed (Fiscal Year 2019)
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| Budget Amount *help |
¥4,030,000 (Direct Cost: ¥3,100,000、Indirect Cost: ¥930,000)
Fiscal Year 2019: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2018: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
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| Keywords | スプライシング / がん体細胞バリアント / TCGA / データベース / がん体細胞変異 / スプライシング制御 |
|---|
| Outline of Final Research Achievements |
Using somatic variants and RNA-seq data from 9,635 patients across 32 The Cancer Genome Atlas (TCGA) projects, we identified 646 exonic splicing enhancer (ESE)-disrupting variants. Existing bioinformatics tools could not predict the pathogenicity of ESE-disrupting variants identified in this study, although these variants could cause exon skipping.
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| Academic Significance and Societal Importance of the Research Achievements |
ゲノム医療においてVariants of Uncertain Significanceと呼ばれる意義不明バリアントの存在が課題の一つであるが、本研究はスプライシング制御という観点から体細胞バリアントの意義を明らかにすることができたため、ゲノム医療推進の一助になると期待される。
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