12月7日,，Nature Biotechnology發(fā)表了由深圳華大基因研究院領(lǐng)銜,，華南理工大學(xué)主要參與的合作研究成果《構(gòu)建人類泛基因組序列圖譜》。
該研究使用深圳華大基因研究院自主研發(fā)并具有國(guó)際領(lǐng)先地位的第二代測(cè)序技術(shù)大基因組組裝工具對(duì)炎黃一號(hào)基因組（即首個(gè)亞洲人個(gè)人基因組）進(jìn)行了進(jìn)一步的深度測(cè)序和拼接,，發(fā)現(xiàn)了人類基因組中除原先公認(rèn)的單核甘酸多態(tài)性，插入刪除多態(tài)性和結(jié)構(gòu)性變異以外，還存在著種群特異甚至個(gè)體獨(dú)有的DNA序列和功能基因,。例如，在該研究中發(fā)現(xiàn)了在主要在亞洲人群內(nèi)特有的基因序列,。這一研究進(jìn)一步證明自主構(gòu)建中國(guó)人群醫(yī)學(xué)基因組學(xué)圖譜,，推進(jìn)個(gè)人基因組研究和個(gè)體化醫(yī)學(xué)研究的必要性,，是我國(guó)科學(xué)家在人類基因組研究領(lǐng)域的又一里程碑式的貢獻(xiàn)。該研究同時(shí)也對(duì)近兩年發(fā)表的非洲人基因組和韓國(guó)人基因組進(jìn)行了重新組裝,，也得到類似結(jié)論,，而這些結(jié)論之前因?yàn)榧夹g(shù)方法限制未能被國(guó)外研究發(fā)現(xiàn)。
據(jù)悉,，目前國(guó)際人類基因計(jì)劃完成的基于歐洲人DNA完成的參考基因組序列是目前絕大多數(shù)人類基因組學(xué)研究的數(shù)據(jù)基礎(chǔ),。多年來(lái)，大多數(shù)科學(xué)研究都認(rèn)為每個(gè)個(gè)體的基因組均與該參考基因組相似,，僅有替換或重排性質(zhì)的變化,。該研究作為全球第一個(gè)通過(guò)新全基因組組裝方法對(duì)多個(gè)人類個(gè)體基因組進(jìn)行拼接，對(duì)人類參考基因組序列進(jìn)行補(bǔ)充,，以充分的分析指出了人類基因組中存在"有或無(wú)"型的基因變異,，從而首次提出了"人類泛基因組"的概念，即人類群體基因序列的總和,。該論文樹(shù)立了新的人類基因組測(cè)序標(biāo)準(zhǔn),，并指出了未來(lái)醫(yī)學(xué)研究的方向，反映了我國(guó)基因組學(xué)在世界的領(lǐng)先地位,。（生物谷Bioon.com）
相關(guān)閱讀：
Nature：首個(gè)中國(guó)人基因組測(cè)序完成
PNAS：成功繪制墨西哥民族基因組圖譜
Nature：首個(gè)韓國(guó)人基因組圖譜繪制完成
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生物谷推薦原始出處：
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.
