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The diploid genome sequence of an asian individual

文献类型：期刊论文

作者Wang, Jun1,2,3,4; Wang, Wei1,3; Li, Ruiqiang1,3,4; Li, Yingrui1,5,6; Tian, Geng1,7; Goodman, Laurie1; Fan, Wei1; Zhang, Junqing1; Li, Jun1; Zhang, Juanbin1
刊名Nature
出版日期2008-11-06
卷号456期号:7218页码:60-u1
ISSN号0028-0836
DOI10.1038/nature07484
通讯作者Wang, jun(wangj@genomics.org.cn)
英文摘要Here we present the first diploid genome sequence of an asian individual. the genome was sequenced to 36- fold average coverage using massively parallel sequencing technology. we aligned the short reads onto the ncbi human reference genome to 99.97% coverage, and guided by the reference genome, we used uniquely mapped reads to assemble a high- quality consensus sequence for 92% of the asian individual's genome. we identified approximately 3 million single- nucleotide polymorphisms ( snps) inside this region, of which 13.6% were not in the dbsnp database. genotyping analysis showed that snp identification had high accuracy and consistency, indicating the high sequence quality of this assembly. we also carried out heterozygote phasing and haplotype prediction against hapmap chb and jpt haplotypes ( chinese and japanese, respectively), sequence comparison with the two available individual genomes ( j. d. watson and j. c. venter), and structural variation identification. these variations were considered for their potential biological impact. our sequence data and analyses demonstrate the potential usefulness of next- generation sequencing technologies for personal genomics.
WOS关键词STRUCTURAL VARIATION ; REVEALS ; DISEASE ; DNA
WOS研究方向Science & Technology - Other Topics
WOS类目Multidisciplinary Sciences
语种英语
出版者NATURE PUBLISHING GROUP
WOS记录号WOS:000260674000040
URI标识http://www.irgrid.ac.cn/handle/1471x/2387368
专题中国科学院大学
通讯作者Wang, Jun
作者单位1.Beijing Genom Inst Shenzhen, Shenzhen 518000, Peoples R China
2.Shenzhen Univ Med Sch, Genome Res Inst, Shenzhen 518000, Peoples R China
3.Natl Engn Ctr Genom & Bioinformat, Beijing 101300, Peoples R China
4.Univ So Denmark, Dept Biochem & Mol Biol, DK-5230 Odense M, Denmark
5.Peking Univ, Coll Life Sci, Beijing 100871, Peoples R China
6.Chinese Acad Sci, Beijing Inst Genom, Beijing Genom Inst, Beijing 101300, Peoples R China
7.Grad Univ Chinese Acad Sci, Beijing 100062, Peoples R China
8.Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England
9.Univ Calif Berkeley, Dept Integrat Biol, Berkeley, CA 94720 USA
10.Univ Calif Berkeley, Dept Stat, Berkeley, CA 94720 USA
推荐引用方式
GB/T 7714		 Wang, Jun,Wang, Wei,Li, Ruiqiang,et al. The diploid genome sequence of an asian individual[J]. Nature,2008,456(7218):60-u1.
APA Wang, Jun.,Wang, Wei.,Li, Ruiqiang.,Li, Yingrui.,Tian, Geng.,...&Wang, Jian.(2008).The diploid genome sequence of an asian individual.Nature,456(7218),60-u1.
MLA Wang, Jun,et al."The diploid genome sequence of an asian individual".Nature 456.7218(2008):60-u1.

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来源：中国科学院大学

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