11月6日最新一期《自然》雜志以封面文章形式發(fā)表了由深圳華大基因研究院完成的首個中國人基因組序列研究成果（定名“炎黃一號”）,。
深圳華大基因研究院院長汪建介紹說,，這一長達(dá)7頁的長篇論文描繪了第一個亞洲人的全基因組圖譜，測序數(shù)據(jù)總量達(dá)到1177億堿基對，基因組平均測序深度達(dá)到36倍,，有效覆蓋率高達(dá)99．97％,，變異檢測精度達(dá)99．9％以上。
科學(xué)家在這一研究中詳細(xì)比較了中國人與已有數(shù)據(jù)的白種人基因組在序列和結(jié)構(gòu)上的差異性,，新發(fā)現(xiàn)了41．7萬例獨有的遺傳多態(tài)性位點,，并對相應(yīng)的基因功能進(jìn)行了探討，較全面地闡述了中國人基因組結(jié)構(gòu)的特征,。
“炎黃一號”作為中國人參照基因組序列,，從基因組學(xué)上對中國人與其他族群在疾病易感性和藥物反應(yīng)方面的顯著差異作出了解釋，揭示了中國人自主的基因組研究與中國人的醫(yī)學(xué)健康事業(yè)發(fā)展的重要關(guān)聯(lián)性和必要性,，對中國的基因科學(xué)研究和產(chǎn)業(yè)發(fā)展具有重要的指導(dǎo)意義,。
“炎黃一號”計劃在進(jìn)行過程中采用了國際領(lǐng)先的DNA測序技術(shù)，科學(xué)家們進(jìn)行了大量的探索和生物信息軟件開發(fā),，并在自主構(gòu)建的高性能計算集群上完成了序列分析和基因組注釋的工作,。這些創(chuàng)新性突破在技術(shù)上引領(lǐng)了中國乃至世界基因組科學(xué)和產(chǎn)業(yè)的發(fā)展，革命性地推動了生物醫(yī)學(xué)的進(jìn)步,。（生物谷Bioon.com）
生物谷推薦原始出處：
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.
