12月7日，Nature Biotechnology发表了由深圳华大基因研究院领衔，华南理工大学主要参与的合作研究成果《构建人类泛基因组序列图谱》。
该研究使用深圳华大基因研究院自主研发并具有国际领先地位的第二代测序技术大基因组组装工具对炎黄一号基因组（即首个亚洲人个人基因组）进行了进一步的深度测序和拼接，发现了人类基因组中除原先公认的单核甘酸多态性，插入删除多态性和结构性变异以外，还存在着种群特异甚至个体独有的DNA序列和功能基因。例如，在该研究中发现了在主要在亚洲人群内特有的基因序列。这一研究进一步证明自主构建中国人群医学基因组学图谱，推进个人基因组研究和个体化医学研究的必要性，是我国科学家在人类基因组研究领域的又一里程碑式的贡献。该研究同时也对近两年发表的非洲人基因组和韩国人基因组进行了重新组装，也得到类似结论，而这些结论之前因为技术方法限制未能被国外研究发现。
据悉，目前国际人类基因计划完成的基于欧洲人DNA完成的参考基因组序列是目前绝大多数人类基因组学研究的数据基础。多年来，大多数科学研究都认为每个个体的基因组均与该参考基因组相似，仅有替换或重排性质的变化。该研究作为全球第一个通过新全基因组组装方法对多个人类个体基因组进行拼接，对人类参考基因组序列进行补充，以充分的分析指出了人类基因组中存在"有或无"型的基因变异，从而首次提出了"人类泛基因组"的概念，即人类群体基因序列的总和。该论文树立了新的人类基因组测序标准，并指出了未来医学研究的方向，反映了我国基因组学在世界的领先地位。（生物谷Bioon.com）
相关阅读：
Nature：首个中国人基因组测序完成
PNAS：成功绘制墨西哥民族基因组图谱
Nature：首个韩国人基因组图谱绘制完成
个人基因组测序将蓬勃发展—生物谷专访Knome公司总裁及CEO
个人基因组检测最低只需199美元
生物谷推荐原始出处：
Nature Biotechnology 7 December 2009 | doi:10.1038/nbt.1596
Building the sequence map of the human pan-genome
Ruiqiang Li1,2,7, Yingrui Li1,7, Hancheng Zheng1,3,7, Ruibang Luo1,3,7, Hongmei Zhu1, Qibin Li1, Wubin Qian1, Yuanyuan Ren1, Geng Tian1, Jinxiang Li1, Guangyu Zhou1, Xuan Zhu1, Honglong Wu1,6, Junjie Qin1, Xin Jin1,3, Dongfang Li1,6, Hongzhi Cao1,6, Xueda Hu1, Hélène Blanche4, Howard Cann4, Xiuqing Zhang1, Songgang Li1, Lars Bolund1,5, Karsten Kristiansen1,2, Huanming Yang1, Jun Wang1,2 & Jian Wang1
Abstract
Here we integrate the de novo assembly of an Asian and an African genome with the NCBI reference human genome, as a step toward constructing the human pan-genome. We identified 5 Mb of novel sequences not present in the reference genome in each of these assemblies. Most novel sequences are individual or population specific, as revealed by their comparison to all available human DNA sequence and by PCR validation using the human genome diversity cell line panel. We found novel sequences present in patterns consistent with known human migration paths. Cross-species conservation analysis of predicted genes indicated that the novel sequences contain potentially functional coding regions. We estimate that a complete human pan-genome would contain 19–40 Mb of novel sequence not present in the extant reference genome. The extensive amount of novel sequence contributing to the genetic variation of the pan-genome indicates the importance of using complete genome sequencing and de novo assembly.
1 BGI-Shenzhen, Shenzhen 518083, China.
2 Department of Biology, University of Copenhagen, Copenhagen, Denmark.
3 School of Bioscience and Biotechnology, South China University of Technology, Guangzhou, China.
4 Fondation Jean Dausset, Centre d'étude du Polymorphisme Humain (CEPH), Paris, France.
5 Institute of Human Genetics, University of Aarhus, Aarhus, Denmark.
6 Genome Research Institute, Shenzhen University Medical School, Shenzhen, China.
7 These authors contributed equally to this work.
