The diploid genome sequence of an Asian individual

  title={The diploid genome sequence of an Asian individual},
  author={J. Wang and W. Wang and R. Li and Yingrui Li and G. Tian and L. Goodman and Wei Fan and Jun-qing Zhang and J. Li and Juanbin Zhang and Yiran Guo and Binxiao Feng and H. Li and Yao Lu and X. Fang and Huiqing Liang and Zhenglin Du and Dong Li and Yiqing Zhao and Yujie Hu and Zhenzhen Yang and Hancheng Zheng and I. Hellmann and M. Inouye and J. Pool and X. Yi and J. Zhao and Jinjie Duan and Y. Zhou and J. Qin and Lijia Ma and Guoqing Li and Z. 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 H. Zhu and D. Liu and Zhike Lu and Ning Li and Guangwu Guo and Jianguo Zhang and Jia Ye and L. Fang and Qinghong Hao and Quan Chen and Yuxi Liang and Yeyang Su and A. San and Cuo Ping and S. Yang and Fang Chen and L. Li and Ke Zhou and Hongkun Zheng and Yuanyuan Ren and L. Yang and Yang Gao and Guohua Yang and Zhuo Li and X. Feng and K. Kristiansen and G. Wong and R. Nielsen and R. Durbin and L. Bolund and Xiuqing Zhang and Songgang Li and H. Yang},
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… Expand
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The Diploid Genome Sequence of an Individual Human
The complete genome of an individual by massively parallel DNA sequencing
Sequencing and Analysis of Neanderthal Genomic DNA
The Personal Genome Project
  • G. Church
  • Biology, Medicine
  • Molecular systems biology
  • 2005
dbSNP: the NCBI database of genetic variation
Detection of large-scale variation in the human genome