The diploid genome sequence of an Asian individual

Jun Wang (), Wei Wang, Ruiqiang Li, Yingrui Li, Geng Tian, Laurie Goodman, Wei Fan, Junqing Zhang, Jun Li, Juanbin Zhang, Yiran Guo, Binxiao Feng, Heng Li, Yao Lu, Xiaodong Fang, Huiqing Liang, Zhenglin Du, Dong Li, Yiqing Zhao, Yujie Hu, Zhenzhen Yang, Hancheng Zheng, Ines Hellmann, Michael Inouye, John Pool, Xin Yi, Jing Zhao, Jinjie Duan, Yan Zhou, Junjie Qin, Lijia Ma, Guoqing Li, Zhentao Yang, Guojie Zhang, Bin Yang, Chang Yu, Fang Liang, Wenjie Li, Shaochuan Li, Dawei Li, Peixiang Ni, Jue Ruan, Qibin Li, Hongmei Zhu, Dongyuan Liu, Zhike Lu, Ning Li, Guangwu Guo, Jianguo Zhang, Jia Ye, Lin Fang, Qin Hao, Quan Chen, Yu Liang, Yeyang Su, A. San, Cuo Ping, Shuang Yang, Fang Chen, Li Li, Ke Zhou, Hongkun Zheng, Yuanyuan Ren, Ling Yang, Yang Gao, Guohua Yang, Zhuo Li, Xiaoli Feng, Karsten Kristiansen, Gane Ka-Shu Wong, Rasmus Nielsen, Richard Durbin, Lars Bolund, Xiuqing Zhang, Songgang Li, Huanming Yang and Jian Wang ()
Additional contact information
Jun Wang: Beijing Genomics Institute at Shenzhen
Wei Wang: Beijing Genomics Institute at Shenzhen
Ruiqiang Li: Beijing Genomics Institute at Shenzhen
Yingrui Li: Beijing Genomics Institute at Shenzhen
Geng Tian: Beijing Genomics Institute at Shenzhen
Laurie Goodman: Beijing Genomics Institute at Shenzhen
Wei Fan: Beijing Genomics Institute at Shenzhen
Junqing Zhang: Beijing Genomics Institute at Shenzhen
Jun Li: Beijing Genomics Institute at Shenzhen
Juanbin Zhang: Beijing Genomics Institute at Shenzhen
Yiran Guo: Beijing Genomics Institute at Shenzhen
Binxiao Feng: Beijing Genomics Institute at Shenzhen
Heng Li: Beijing Genomics Institute at Shenzhen
Yao Lu: Beijing Genomics Institute at Shenzhen
Xiaodong Fang: Beijing Genomics Institute at Shenzhen
Huiqing Liang: Beijing Genomics Institute at Shenzhen
Zhenglin Du: Beijing Genomics Institute at Shenzhen
Dong Li: Beijing Genomics Institute at Shenzhen
Yiqing Zhao: Beijing Genomics Institute at Shenzhen
Yujie Hu: Beijing Genomics Institute at Shenzhen
Zhenzhen Yang: Beijing Genomics Institute at Shenzhen
Hancheng Zheng: Beijing Genomics Institute at Shenzhen
Ines Hellmann: University of California, Berkeley, California 94720, USA
Michael Inouye: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
John Pool: University of California, Berkeley, California 94720, USA
Xin Yi: Beijing Genomics Institute at Shenzhen
Jing Zhao: Beijing Genomics Institute at Shenzhen
Jinjie Duan: Beijing Genomics Institute at Shenzhen
Yan Zhou: Beijing Genomics Institute at Shenzhen
Junjie Qin: Beijing Genomics Institute at Shenzhen
Lijia Ma: Beijing Genomics Institute at Shenzhen
Guoqing Li: Beijing Genomics Institute at Shenzhen
Zhentao Yang: Beijing Genomics Institute at Shenzhen
Guojie Zhang: Beijing Genomics Institute at Shenzhen
Bin Yang: Beijing Genomics Institute at Shenzhen
Chang Yu: Beijing Genomics Institute at Shenzhen
Fang Liang: Beijing Genomics Institute at Shenzhen
Wenjie Li: Beijing Genomics Institute at Shenzhen
Shaochuan Li: Beijing Genomics Institute at Shenzhen
Dawei Li: Beijing Genomics Institute at Shenzhen
Peixiang Ni: Beijing Genomics Institute at Shenzhen
Jue Ruan: Beijing Genomics Institute at Shenzhen
Qibin Li: Beijing Genomics Institute at Shenzhen
Hongmei Zhu: Beijing Genomics Institute at Shenzhen
Dongyuan Liu: Beijing Genomics Institute at Shenzhen
Zhike Lu: Beijing Genomics Institute at Shenzhen
Ning Li: Beijing Genomics Institute at Shenzhen
Guangwu Guo: Beijing Genomics Institute at Shenzhen
Jianguo Zhang: Beijing Genomics Institute at Shenzhen
Jia Ye: Beijing Genomics Institute at Shenzhen
Lin Fang: Beijing Genomics Institute at Shenzhen
Qin Hao: Beijing Genomics Institute at Shenzhen
Quan Chen: Beijing Genomics Institute at Shenzhen
Yu Liang: Beijing Genomics Institute at Shenzhen
Yeyang Su: Beijing Genomics Institute at Shenzhen
A. San: Beijing Genomics Institute at Shenzhen
Cuo Ping: Beijing Genomics Institute at Shenzhen
Shuang Yang: Beijing Genomics Institute at Shenzhen
Fang Chen: Beijing Genomics Institute at Shenzhen
Li Li: Beijing Genomics Institute at Shenzhen
Ke Zhou: Beijing Genomics Institute at Shenzhen
Hongkun Zheng: Beijing Genomics Institute at Shenzhen
Yuanyuan Ren: Beijing Genomics Institute at Shenzhen
Ling Yang: Beijing Genomics Institute at Shenzhen
Yang Gao: Beijing Genomics Institute at Shenzhen
Guohua Yang: Beijing Genomics Institute at Shenzhen
Zhuo Li: Beijing Genomics Institute at Shenzhen
Xiaoli Feng: Beijing Genomics Institute at Shenzhen
Karsten Kristiansen: University of Southern Denmark
Gane Ka-Shu Wong: Beijing Genomics Institute at Shenzhen
Rasmus Nielsen: University of California, Berkeley, California 94720, USA
Richard Durbin: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
Lars Bolund: Beijing Genomics Institute at Shenzhen
Xiuqing Zhang: Beijing Genomics Institute at Shenzhen
Songgang Li: Beijing Genomics Institute at Shenzhen
Huanming Yang: Beijing Genomics Institute at Shenzhen
Jian Wang: Beijing Genomics Institute at Shenzhen

Nature, 2008, vol. 456, issue 7218, 60-65

Abstract: 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.

Date: 2008
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DOI: 10.1038/nature07484

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