Building the sequence map of the human pan-genome

Li, Ruiqiang, Li, Yingrui, Zheng, Hancheng, Luo, Ruibang, Zhu, Hongmei, Li, Qibin, Qian, Wubin, Ren, Yuanyuan, Tian, Geng, Li, Jinxiang, Zhou, Guangyu, Zhu, Xuan, Wu, Honglong, Qin, Junjie, Jin, Xin, Li, Dongfang, Cao, Hongzhi, Hu, Xueda, Blanche, Helene, Cann, Howard, Zhang, Xiuqing, Li, Songgang, Bolund, Lars, Kristiansen, Karsten, Yang, Huanming, Wang, Jun and Wang, Jian (2010) Building the sequence map of the human pan-genome. Nature Biotechnology, 28 1: 57-63. doi:10.1038/nbt.1596

Author Li, Ruiqiang
Li, Yingrui
Zheng, Hancheng
Luo, Ruibang
Zhu, Hongmei
Li, Qibin
Qian, Wubin
Ren, Yuanyuan
Tian, Geng
Li, Jinxiang
Zhou, Guangyu
Zhu, Xuan
Wu, Honglong
Qin, Junjie
Jin, Xin
Li, Dongfang
Cao, Hongzhi
Hu, Xueda
Blanche, Helene
Cann, Howard
Zhang, Xiuqing
Li, Songgang
Bolund, Lars
Kristiansen, Karsten
Yang, Huanming
Wang, Jun
Wang, Jian
Title Building the sequence map of the human pan-genome
Journal name Nature Biotechnology   Check publisher's open access policy
ISSN 1087-0156
Publication date 2010-01-01
Year available 2009
Sub-type Article (original research)
DOI 10.1038/nbt.1596
Open Access Status Not yet assessed
Volume 28
Issue 1
Start page 57
End page 63
Total pages 7
Place of publication New York, NY, United States
Publisher Nature Publishing Group
Language eng
Formatted 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 19-40Mb 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.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
Collection: Institute for Molecular Bioscience - Publications
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