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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 179 - 192 (14page)
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The human genome has various genomic structural variations such as insertion/deletions between human individuals. These structural variations have led to genomic fluidity and rearrangements in individuals and populations. To investigate Korean-specific structural genomic variations, we performed next generation sequencing with 309 mean coverage from 27 Korean individuals using illumina-HiSeq 2000 platform. We collected a total of 119 deletion loci as transposable elementmediated Korean-specific deletion (KSD) candidates. Of the 119 loci, 35 were filtered out due to computational overlapping regions. A total of 78 loci were validated by PCR amplification with 27 Korean individuals and 80 human individuals from four different populations. We confirmed deletion breakpoints of the 78 loci using Sanger sequencing. We also investigated different deletion mechanisms based on sequencing alignment analysis. We found at least one KSD locus in 80 human individual panel. It has not been previously reported in human genomes. Here, for the first time, we report transposable element-mediated KSD study based on whole genome sequencing data of 27 Korean.
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참고문헌 (40)
참고문헌 신청
Anderson KJ / 2009 / Regulation of T-cell immunity by leucocyte immunoglobulin-like receptors: innate immune receptors for self on antigen-presenting cells / Immunology 127:8~17
Baker MD / 2001 / Evidence for biased holliday junction cleavage and mismatch repair directed by junction cuts during double-strand-break repair in mammalian cells / Mol Cell Biol 21:3425~3435
Batzer MA / 2002 / Alu repeats and human genomic diversity / Nat Rev Genet 3:370~379
Belancio VP / 2009 / LINE dancing in the human genome: transposable elements and disease / Genome Med 1:97
Bennett EA / 2004 / Natural genetic variation caused by transposable elements in humans / Genetics 168:933~951
Baker MD / 2001 / Evidence for biased holliday junction cleavage and mismatch repair directed by junction cuts during double-strand-break repair in mammalian cells / Mol Cell Biol 21:3425~3435
Batzer MA / 2002 / Alu repeats and human genomic diversity / Nat Rev Genet 3:370~379
Belancio VP / 2009 / LINE dancing in the human genome: transposable elements and disease / Genome Med 1:97
Bennett EA / 2004 / Natural genetic variation caused by transposable elements in humans / Genetics 168:933~951
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