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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 126 - 130 (5page)
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초록· 키워드
오류제보하기
Progress in human genome research has been made in a number of large international proj- ects, including the HapMap, 1000 Genomes (1KGP), ENCyclopedia of DNA elements (ENCODE) and In- ternational Human Epigenome Consortium (IHEC) projects, and the data generated from the projects can be used as reference information for human genome studies. However, more specific reference sets are need- ed at each population level. While a few studies have been conducted for Korean reference sets with a few reference genomes as well as the chip-based Korean SNP and CNV databases, no Korean-specific variation information is constructed as genome scale. Here, we used Korean exomes to construct Korean variation information. Using read data of 100 Korean exomes obtained Korea National Institution of Health (KNIH), we mapped the exome data of each individual on NCBI GRCh37, merged the mapped information, and extracted information on SNPs and indels. We identified a pool of 1,907,598 SNPs and 325,166 indels as initial varia- tions, masked dbSNP the known variation information against 1KGP variation database, and constructed a database of Korean-specific variations. The database can be utilized as a pilot database of Korean exome variation and contribute to Korean variation study with exome chips or whole genome data.
목차
등록된 정보가 없습니다.
참고문헌 (22)
참고문헌 신청
International HapMap Consortium / 2003 / The International HapMap Project / Nature 426:789~796
1000 Genomes Project Consortium / 2012 / An integrated map of genetic variation from 1,092 human genomes / Nature 491:56~65
ENCODE Project Consortium / 2004 / The ENCODE (ENCyclopedia Of DNA Elements) Project / Science 306:636~640
Adams, D. / 2012 / BLUEPRINT to decode the epigenetic signature written in blood / Nat. Biotechnol 30:224~226
Koike, A. / 2009 / Genome-wide association database developed in the Japanese Integrated Database Project / J. Hum. Genet 54:543~546
1000 Genomes Project Consortium / 2012 / An integrated map of genetic variation from 1,092 human genomes / Nature 491:56~65
ENCODE Project Consortium / 2004 / The ENCODE (ENCyclopedia Of DNA Elements) Project / Science 306:636~640
Adams, D. / 2012 / BLUEPRINT to decode the epigenetic signature written in blood / Nat. Biotechnol 30:224~226
Koike, A. / 2009 / Genome-wide association database developed in the Japanese Integrated Database Project / J. Hum. Genet 54:543~546
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