Building the sequence map of the human pan-genome

摘要：

Here we integrate the de now 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 now assembly.

作者: Ruiqiang Li Jinxiang Li Guangyu Zhou Xuan Zhu Honglong Wu Junjie Qin Xin Jin Dongfang Li Hongzhi Cao Xueda Hu Helene Blanche Yingrui Li Howard Cann Xiuqing Zhang Songgang Li Lars Bolund Karsten Kristiansen Huanming Yang Jun Wang Jian Wang Hancheng Zheng Ruibang Luo Hongmei Zhu Qibin Li Wubin Qian Yuanyuan Ren Geng Tian

作者单位: BGI-Shenzhen, Shenzhen 518083, China Department of Biology, University of Copenhagen, Copenhagen, De BGI-Shenzhen, Shenzhen 518083, China BGI-Shenzhen, Shenzhen 518083, China Genome Research Institute, Shenzhen University Medical School, BGI-Shenzhen, Shenzhen 518083, China School of Bioscience and Biotechnology,South China University o Fondation Jean Dausset, Centre d”Etude du Polymorphisme Humain (CEPH), Paris, France BGI-Shenzhen, Shenzhen 518083, China These authors contributed equally to this work BGI-Shenzhen, Shenzhen 518083, China Institute of Human Genetics, University of Aarhus, Aarhus, Denm BGI-Shenzhen, Shenzhen 518083, China Department of Biology, University of Copenhagen, Copenhagen, De BGI-Shenzhen, Shenzhen 518083, China School of Bioscience and Biotechnology,South China University o

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: 74-80

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）