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Discovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencing

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dc.contributor.authorPark, Hansoo-
dc.contributor.authorKim, Jong-Il-
dc.contributor.authorJu, Young Seok-
dc.contributor.authorGokcumen, Omer-
dc.contributor.authorKim, Sheehyun-
dc.contributor.authorSuh, Dongwhan-
dc.contributor.authorKang, Hyunseok Peter-
dc.contributor.authorShin, Jong-Yeon-
dc.contributor.authorYavartanoo, Maryam-
dc.contributor.authorKim, Hyungtae-
dc.contributor.authorYang, Kap-Seok-
dc.contributor.authorYang, Song Ju-
dc.contributor.authorKim, HyeRan-
dc.contributor.authorDarvishi, Katayoon-
dc.contributor.authorHwang, Ga-Ram-
dc.contributor.authorChong, Wilson-
dc.contributor.authorHa, Jung-Sook-
dc.contributor.authorChang, Young Wha-
dc.contributor.authorSeo, Jeong-Sun-
dc.contributor.authorLee, Charles-
dc.contributor.authorTyler-Smith, Chris-
dc.contributor.authorCarter, Nigel P.-
dc.contributor.authorScherer, Stephen W.-
dc.contributor.authorHurles, Matthew E.-
dc.contributor.authorKim, Hyun-Jin-
dc.contributor.authorYoo, Yun Joo-
dc.contributor.authorHong, Dongwan-
dc.contributor.authorLee, Seungbok-
dc.contributor.authorMills, Ryan E.-
dc.date.accessioned2012-06-05T05:30:29Z-
dc.date.available2012-06-05T05:30:29Z-
dc.date.issued2010-05-
dc.identifier.citationNATURE GENETICS; Vol.42 5; 400-U61ko_KR
dc.identifier.issn1061-4036-
dc.identifier.urihttps://hdl.handle.net/10371/76846-
dc.description.abstractCopy number variants (CNVs) account for the majority of human genomic diversity in terms of base coverage. Here, we have developed and applied a new method to combine high-resolution array comparative genomic hybridization (CGH) data with whole-genome DNA sequencing data to obtain a comprehensive catalog of common CNVs in Asian individuals. The genomes of 30 individuals from three Asian populations (Korean, Chinese and Japanese) were interrogated with an ultra-high-resolution array CGH platform containing 24 million probes. Whole-genome sequencing data from a reference genome (NA10851, with 28.3x coverage) and two Asian genomes (AK1, with 27.8x coverage and AK2, with 32.0x coverage) were used to transform the relative copy number information obtained from array CGH experiments into absolute copy number values. We discovered 5,177 CNVs, of which 3,547 were putative Asian-specific CNVs. These common CNVs in Asian populations will be a useful resource for subsequent genetic studies in these populations, and the new method of calling absolute CNVs will be essential for applying CNV data to personalized medicine.ko_KR
dc.language.isoenko_KR
dc.publisherNATURE PUBLISHING GROUPko_KR
dc.titleDiscovery of common Asian copy number variants using integrated high-resolution array CGH and massively parallel DNA sequencingko_KR
dc.typeArticleko_KR
dc.contributor.AlternativeAuthor박한수-
dc.contributor.AlternativeAuthor김종일-
dc.contributor.AlternativeAuthor주영석-
dc.contributor.AlternativeAuthor김시현-
dc.contributor.AlternativeAuthor이승복-
dc.contributor.AlternativeAuthor서동환-
dc.contributor.AlternativeAuthor홍동완-
dc.contributor.AlternativeAuthor강현석-
dc.contributor.AlternativeAuthor유윤주-
dc.contributor.AlternativeAuthor신종연-
dc.contributor.AlternativeAuthor김현진-
dc.contributor.AlternativeAuthor장용화-
dc.contributor.AlternativeAuthor하정숙-
dc.contributor.AlternativeAuthor황가람-
dc.contributor.AlternativeAuthor김혜란-
dc.contributor.AlternativeAuthor양송주-
dc.contributor.AlternativeAuthor양갑석-
dc.contributor.AlternativeAuthor김형태-
dc.contributor.AlternativeAuthor서정선-
dc.identifier.doi10.1038/ng.555-
dc.citation.journaltitleNATURE GENETICS-
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