The diploid genome sequence of an Asian individual

Wang, Jun, Wang, Wei, Li, Ruiqiang, Li, Yingrui, Tian, Geng, Goodman, Laurie, Fan, Wei, Zhang, Junqing, Li, Jun, Zhang, Juanbin, Guo, Yiran, Feng, Binxiao, Li, Heng, Lu, Yao, Fang, Xiaodong, Liang, Huiqing, Du, Zhenglin, Li, Dong, Zhao, Yiqing, Hu, Yujie, Yang, Zhenzhen, Zheng, Hancheng, Hellmann, Ines, Inouye, Michael, Pool, John, Yi, Xin, Zhao, Jing, Duan, Jinjie, Zhou, Yan, Qin, Junjie, Ma, Lijia, Li, Guoqing, Yang, Zhentao, Zhang, Guojie, Yang, Bin, Yu, Chang, Liang, Fang, Li, Wenjie, Li, Shaochuan, Li, Dawei, Ni, Peixiang, Ruan, Jue, Li, Qibin, Zhu, Hongmei, Liu, Dongyuan, Lu, Zhike, Li, Ning, Guo, Guangwu, Zhang, Jianguo, Ye, Jia, Fang, Lin, Hao, Qin, Chen, Quan, Liang, Yu, Su, Yeyang, San, A., Ping, Cuo, Yang, Shuang, Chen, Fang, Li, Li, Zhou, Ke, Zheng, Hongkun, Ren, Yuanyuan, Yang, Ling, Gao, Yang, Yang, Guohua, Li, Zhuo, Feng, Xiaoli, Kristiansen, Karsten, Wong, Gane Ka-Shu, Nielsen, Rasmus, Durbin, Richard, Bolund, Lars, Zhang, Xiuqing, Li, Songgang, Yang, Huanming and Wang, Jian (2008) The diploid genome sequence of an Asian individual. Nature, 456 7218: 60-65. doi:10.1038/nature07484


Author Wang, Jun
Wang, Wei
Li, Ruiqiang
Li, Yingrui
Tian, Geng
Goodman, Laurie
Fan, Wei
Zhang, Junqing
Li, Jun
Zhang, Juanbin
Guo, Yiran
Feng, Binxiao
Li, Heng
Lu, Yao
Fang, Xiaodong
Liang, Huiqing
Du, Zhenglin
Li, Dong
Zhao, Yiqing
Hu, Yujie
Yang, Zhenzhen
Zheng, Hancheng
Hellmann, Ines
Inouye, Michael
Pool, John
Yi, Xin
Zhao, Jing
Duan, Jinjie
Zhou, Yan
Qin, Junjie
Ma, Lijia
Li, Guoqing
Yang, Zhentao
Zhang, Guojie
Yang, Bin
Yu, Chang
Liang, Fang
Li, Wenjie
Li, Shaochuan
Li, Dawei
Ni, Peixiang
Ruan, Jue
Li, Qibin
Zhu, Hongmei
Liu, Dongyuan
Lu, Zhike
Li, Ning
Guo, Guangwu
Zhang, Jianguo
Ye, Jia
Fang, Lin
Hao, Qin
Chen, Quan
Liang, Yu
Su, Yeyang
San, A.
Ping, Cuo
Yang, Shuang
Chen, Fang
Li, Li
Zhou, Ke
Zheng, Hongkun
Ren, Yuanyuan
Yang, Ling
Gao, Yang
Yang, Guohua
Li, Zhuo
Feng, Xiaoli
Kristiansen, Karsten
Wong, Gane Ka-Shu
Nielsen, Rasmus
Durbin, Richard
Bolund, Lars
Zhang, Xiuqing
Li, Songgang
Yang, Huanming
Wang, Jian
Title The diploid genome sequence of an Asian individual
Journal name Nature   Check publisher's open access policy
ISSN 0028-0836
1476-4687
Publication date 2008-11-06
Sub-type Article (original research)
DOI 10.1038/nature07484
Open Access Status Not Open Access
Volume 456
Issue 7218
Start page 60
End page 65
Total pages 6
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Abstract 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.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
 
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