The diploid genome sequence of an Asian individual.


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.

DOI: 10.1038/nature07484

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@article{Wang2008TheDG, title={The diploid genome sequence of an Asian individual.}, author={Jun Wang and Wei Wang and Ruiqiang Li and Yingrui Li and Geng Tian and Laurie Goodman and Wei Fan and Junqing Zhang and Jun Li and Juanbin Zhang and Yiran Guo and Binxiao Feng and Heng Li and Yao Lu and Xiaodong Fang and Huiqing Liang and Zhenglin Du and Dong Li and Yiqing Zhao and Yujie Hu and Zhenzhen Yang and Hancheng Zheng and Ines Hellmann and Michael Inouye and John Pool and Xin Yi and Jing Zhao and Jinjie Duan and Yan Zhou and Junjie Qin and Lijia Ma and Guoqing Li and Zhentao Yang and Guojie Zhang and Bin Yang and Chang Yu and Fang Liang and Wenjie Li and Shaochuan Li and Dawei Li and Peixiang Ni and Jue Ruan and Qibin Li and Hongmei Zhu and Dongyuan Liu and Zhike Lu and Ning Li and Guangwu Guo and Jianguo Zhang and Jia Ye and Lin Fang and Qin Hao and Quan Chen and Yu Liang and Yeyang Su and A San and Cuo Ping and Shuang Yang and Fang Chen and Li Li and Ke Zhou and Hongkun Zheng and Yuanyuan Ren and Ling Yang and Yang Gao and Guohua Yang and Zhuo Li and Xiaoli Feng and Karsten Kristiansen and Gane Ka-Shu Wong and Rasmus Nielsen and Richard Durbin and Lars Bolund and Xiuqing Zhang and Songgang Li and Huanming Yang and Jian Wang}, journal={Nature}, year={2008}, volume={456 7218}, pages={60-5} }