The diploid genome sequence of an Asian individual

被引：663

作者：

Wang, Jun ^{[1
,2
,3
,4
]}

Wang, Wei ^{[1
,3
]}

Li, Ruiqiang ^{[1
,3
,4
]}

Li, Yingrui ^{[1
,5
,6
]}

Tian, Geng ^{[1
,7
]}

Goodman, Laurie ^{[1
]}

Fan, Wei ^{[1
]}

Zhang, Junqing ^{[1
]}

Li, Jun ^{[1
]}

Zhang, Juanbin ^{[1
]}

Guo, Yiran ^{[1
,7
]}

Feng, Binxiao ^{[1
]}

Li, Heng ^{[1
,8
]}

Lu, Yao ^{[1
]}

Fang, Xiaodong ^{[1
]}

Liang, Huiqing ^{[1
]}

Du, Zhenglin ^{[1
]}

Li, Dong ^{[1
]}

Zhao, Yiqing ^{[1
,7
]}

Hu, Yujie ^{[1
,7
]}

Yang, Zhenzhen ^{[1
]}

Zheng, Hancheng ^{[1
]}

Hellmann, Ines ^{[9
,10
]}

Inouye, Michael ^{[8
]}

Pool, John ^{[9
,10
]}

Yi, Xin ^{[1
,7
]}

Zhao, Jing ^{[1
]}

Duan, Jinjie ^{[1
]}

Zhou, Yan ^{[1
]}

Qin, Junjie ^{[1
,7
]}

Ma, Lijia ^{[1
,7
]}

Li, Guoqing ^{[1
]}

Yang, Zhentao ^{[1
]}

Zhang, Guojie ^{[1
,7
]}

Yang, Bin ^{[1
]}

Yu, Chang ^{[1
]}

Liang, Fang ^{[1
,7
]}

Li, Wenjie ^{[1
]}

Li, Shaochuan ^{[1
]}

Li, Dawei ^{[1
]}

Ni, Peixiang ^{[1
]}

Ruan, Jue ^{[1
,7
]}

Li, Qibin ^{[1
,7
]}

Zhu, Hongmei ^{[1
]}

Liu, Dongyuan ^{[1
]}

Lu, Zhike ^{[1
]}

Li, Ning ^{[1
,7
]}

Guo, Guangwu ^{[1
,7
]}

Zhang, Jianguo ^{[1
]}

Ye, Jia ^{[1
]}

机构：

[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

[11] Univ Alberta, Dept Biol Sci, Edmonton, AB T6G 2E9, Canada

[12] Univ Alberta, Dept Med, Edmonton, AB T6G 2E9, Canada

[13] Aarhus Univ, Inst Human Genet, DK-8000 Aarhus, Denmark

来源：

NATURE | 2008年 / 456卷 / 7218期

基金：

中国国家自然科学基金;

关键词：

D O I：

10.1038/nature07484

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

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.

引用

页码：60 / U1

页数：7

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