| Budget Amount *help |
¥94,250,000 (Direct Cost: ¥72,500,000、Indirect Cost: ¥21,750,000)
Fiscal Year 2014: ¥14,560,000 (Direct Cost: ¥11,200,000、Indirect Cost: ¥3,360,000)
Fiscal Year 2013: ¥15,210,000 (Direct Cost: ¥11,700,000、Indirect Cost: ¥3,510,000)
Fiscal Year 2012: ¥15,990,000 (Direct Cost: ¥12,300,000、Indirect Cost: ¥3,690,000)
Fiscal Year 2011: ¥15,860,000 (Direct Cost: ¥12,200,000、Indirect Cost: ¥3,660,000)
Fiscal Year 2010: ¥32,630,000 (Direct Cost: ¥25,100,000、Indirect Cost: ¥7,530,000)
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| Outline of Final Research Achievements |
Disease-associated genetic variations in the human genome are divergent, including single nucleotide polymorphism (SNP) and short insertions/deletions as well as large-scale variations such as large deletions, long transposons, intra-chromosomal inversions, and chromosomal rearrangements. Comprehensive understanding of these variations has been challenging because an enormous volume of information had to be collected and classified properly. In this study, we utilize two types of high-throughput DNA sequencer of complementary characteristics; namely, one type outputs highly accurate but short DNA reads, while the other is able to generate extremely long reads of average length > 10,000 base pairs with moderate base accuracy. We developed a suite of algorithms that combined short and long reads to uncover large-scale structural variations. With these methods, we were able to detect a number of structural variations specific to brain diseases.
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