The diploid genome sequence of an Asian individual

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. 0. 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.

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

作者单位: Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China National Engineering Center for Genom Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China The Graduate University of Chinese Ac Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China The Wellcome Trust Sanger Institute, Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China National Engineering Center for Genom Departments of Integrative Biology and Statistics, University of California, Berkeley, California 94 The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 ISA, UK Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China College of Life Sciences, Peking Univ Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China College of Life Sciences, Peking Univ Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China Department of Biochemistry and Molecu Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China Beijing Genomics Institute, Beijing I Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense M DK-5230, Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China Department of Biological Sciences and Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China Insitute of Human Genetics, Universit Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China Genome Research Institute, Shenzhen U Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China Genome Research Institute, Shenzhen U Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China Genome Research Institute, Shenzhen U

会议类型: 国内会议

会议名称: 第五届中国生物产业大会——2011基因科学与产业发展论坛

会议地点: 深圳

会议语种:英文

页码: 81-87

在线出版日期: 2011-06-17（万方平台首次上网日期，不代表论文的发表时间）