Nature：首个中国人基因组测序完成

11月6日最新一期《自然》杂志以封面文章形式发表了由深圳华大基因研究院完成的首个中国人基因组序列研究成果（定名“炎黄一号”）。

深圳华大基因研究院院长汪建介绍说，这一长达7页的长篇论文描绘了第一个亚洲人的全基因组图谱，测序数据总量达到1177亿碱基对，基因组平均测序深度达到36倍，有效覆盖率高达99．97％，变异检测精度达99．9％以上。

科学家在这一研究中详细比较了中国人与已有数据的白种人基因组在序列和结构上的差异性，新发现了41．7万例独有的遗传多态性位点，并对相应的基因功能进行了探讨，较全面地阐述了中国人基因组结构的特征。

“炎黄一号”作为中国人参照基因组序列，从基因组学上对中国人与其他族群在疾病易感性和药物反应方面的显著差异作出了解释，揭示了中国人自主的基因组研究与中国人的医学健康事业发展的重要关联性和必要性，对中国的基因科学研究和产业发展具有重要的指导意义。

“炎黄一号”计划在进行过程中采用了国际领先的DNA测序技术，科学家们进行了大量的探索和生物信息软件开发，并在自主构建的高性能计算集群上完成了序列分析和基因组注释的工作。这些创新性突破在技术上引领了中国乃至世界基因组科学和产业的发展，革命性地推动了生物医学的进步。

原始出处：

Nature 456, 60-65 (6 November 2008) | doi:10.1038/nature07484

The diploid genome sequence of an Asian individual

Jun Wang1,2,3,4,12, Wei Wang1,3,12, Ruiqiang Li1,3,4,12, Yingrui Li1,5,6,12, Geng Tian1,7, Laurie Goodman1, Wei Fan1, Junqing Zhang1, Jun Li1, Juanbin Zhang1, Yiran Guo1,7, Binxiao Feng1, Heng Li1,8, Yao Lu1, Xiaodong Fang1, Huiqing Liang1, Zhenglin Du1, Dong Li1, Yiqing Zhao1,7, Yujie Hu1,7, Zhenzhen Yang1, Hancheng Zheng1, Ines Hellmann9, Michael Inouye8, John Pool9, Xin Yi1,7, Jing Zhao1, Jinjie Duan1, Yan Zhou1, Junjie Qin1,7, Lijia Ma1,7, Guoqing Li1, Zhentao Yang1, Guojie Zhang1,7, Bin Yang1, Chang Yu1, Fang Liang1,7, Wenjie Li1, Shaochuan Li1, Dawei Li1, Peixiang Ni1, Jue Ruan1,7, Qibin Li1,7, Hongmei Zhu1, Dongyuan Liu1, Zhike Lu1, Ning Li1,7, Guangwu Guo1,7, Jianguo Zhang1, Jia Ye1, Lin Fang1, Qin Hao1,7, Quan Chen1,5, Yu Liang1,7, Yeyang Su1,7, A. san1,7, Cuo Ping1,7, Shuang Yang1, Fang Chen1,7, Li Li1, Ke Zhou1, Hongkun Zheng1,4, Yuanyuan Ren1, Ling Yang1, Yang Gao1,6, Guohua Yang1,2, Zhuo Li1, Xiaoli Feng1, Karsten Kristiansen4, Gane Ka-Shu Wong1,10, Rasmus Nielsen9, Richard Durbin8, Lars Bolund1,11, Xiuqing Zhang1,6, Songgang Li1,2,5, Huanming Yang1,2,3 & Jian Wang1,2,3

1 Beijing Genomics Institute at Shenzhen, Shenzhen 518000, China
2 Genome Research Institute, Shenzhen University Medical School, Shenzhen 518000, China
3 National Engineering Center for Genomics and Bioinformatics, Beijing 101300, China
4 Department of Biochemistry and Molecular Biology, University of Southern Denmark, Odense M DK-5230, Denmark
5 College of Life Sciences, Peking University, Beijing 100871, China
6 Beijing Genomics Institute, Beijing Institute of Genomics of Chinese Academy of Sciences, Beijing 101300, China
7 The Graduate University of Chinese Academy of Sciences, Beijing 100062, China
8 The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
9 Departments of Integrative Biology and Statistics, University of California, Berkeley, California 94720, USA
10 Department of Biological Sciences and Department of Medicine, University of Alberta, Edmonton AB, T6G 2E9, Canada
11 Insitute of Human Genetics, University of Aarhus, Aarhus DK-8000, Denmark
12 These authors contributed equally to this work.

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.