| Budget Amount *help |
¥3,900,000 (Direct Cost: ¥3,000,000、Indirect Cost: ¥900,000)
Fiscal Year 2018: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2017: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2016: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
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| Outline of Final Research Achievements |
Autoinflammatory diseases are classified as one of primary immune disorders, and are inherited diseases mainly caused by genetic abnormalities of innate immune molecules. Some autoinflammatory diseases are caused by somatic mosaicism. Although it is difficult with Sanger sequencing, detection of a mosaic mutations is often performed using a next-generation sequencer, but accurate detection is essential for use at a clinical level.
Using molecular barcode methods, we could accurately detect mosaic mutations. In addition, methods to detect deletions and copy number abnormalities are under investigation.
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