Building the sequence map of the human pan-genome

Research output: Contribution to journal › Journal article › Research › peer-review

Standard

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, Hélène; Cann, Howard; Zhang, Xiuqing; Li, Songgang; Bolund, Lars; Kristiansen, Karsten; Yang, Huanming; Wang, Jun; Wang, Jian.

In: Nature Biotechnology, Vol. 28, No. 1, 2010, p. 57-63.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Li, R, Li, Y, Zheng, H, Luo, R, Zhu, H, Li, Q, Qian, W, Ren, Y, Tian, G, Li, J, Zhou, G, Zhu, X, Wu, H, Qin, J, Jin, X, Li, D, Cao, H, Hu, X, Blanche, H, Cann, H, Zhang, X, Li, S, Bolund, L, Kristiansen, K, Yang, H, Wang, J & Wang, J 2010, 'Building the sequence map of the human pan-genome', Nature Biotechnology, vol. 28, no. 1, pp. 57-63. https://doi.org/10.1038/nbt.1596

APA

Li, R., Li, Y., Zheng, H., Luo, R., Zhu, H., Li, Q., Qian, W., Ren, Y., Tian, G., Li, J., Zhou, G., Zhu, X., Wu, H., Qin, J., Jin, X., Li, D., Cao, H., Hu, X., Blanche, H., ... Wang, J. (2010). Building the sequence map of the human pan-genome. Nature Biotechnology, 28(1), 57-63. https://doi.org/10.1038/nbt.1596

Vancouver

Li R, Li Y, Zheng H, Luo R, Zhu H, Li Q et al. Building the sequence map of the human pan-genome. Nature Biotechnology. 2010;28(1):57-63. https://doi.org/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, Hélène ; Cann, Howard ; Zhang, Xiuqing ; Li, Songgang ; Bolund, Lars ; Kristiansen, Karsten ; Yang, Huanming ; Wang, Jun ; Wang, Jian. / Building the sequence map of the human pan-genome. In: Nature Biotechnology. 2010 ; Vol. 28, No. 1. pp. 57-63.

Bibtex

@article{c35de450a62711df928f000ea68e967b,
title = "Building the sequence map of the human pan-genome",
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 approximately 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 approximately 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.",
author = "Ruiqiang Li and Yingrui Li and Hancheng Zheng and Ruibang Luo and Hongmei Zhu and Qibin Li and Wubin Qian and Yuanyuan Ren and Geng Tian and Jinxiang Li and Guangyu Zhou and Xuan Zhu and Honglong Wu and Junjie Qin and Xin Jin and Dongfang Li and Hongzhi Cao and Xueda Hu and H{\'e}l{\`e}ne Blanche and Howard Cann and Xiuqing Zhang and Songgang Li and Lars Bolund and Karsten Kristiansen and Huanming Yang and Jun Wang and Jian Wang",
note = "Keywords: Animals; Base Sequence; Genetics, Population; Genome, Human; Humans; Sequence Alignment; Sequence Analysis, DNA; Species Specificity",
year = "2010",
doi = "10.1038/nbt.1596",
language = "English",
volume = "28",
pages = "57--63",
journal = "Nature Biotechnology",
issn = "1087-0156",
publisher = "nature publishing group",
number = "1",

}

RIS

TY - JOUR

T1 - Building the sequence map of the human pan-genome

AU - Li, Ruiqiang

AU - Li, Yingrui

AU - Zheng, Hancheng

AU - Luo, Ruibang

AU - Zhu, Hongmei

AU - Li, Qibin

AU - Qian, Wubin

AU - Ren, Yuanyuan

AU - Tian, Geng

AU - Li, Jinxiang

AU - Zhou, Guangyu

AU - Zhu, Xuan

AU - Wu, Honglong

AU - Qin, Junjie

AU - Jin, Xin

AU - Li, Dongfang

AU - Cao, Hongzhi

AU - Hu, Xueda

AU - Blanche, Hélène

AU - Cann, Howard

AU - Zhang, Xiuqing

AU - Li, Songgang

AU - Bolund, Lars

AU - Kristiansen, Karsten

AU - Yang, Huanming

AU - Wang, Jun

AU - Wang, Jian

N1 - Keywords: Animals; Base Sequence; Genetics, Population; Genome, Human; Humans; Sequence Alignment; Sequence Analysis, DNA; Species Specificity

PY - 2010

Y1 - 2010

N2 - 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 approximately 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 approximately 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.

AB - 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 approximately 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 approximately 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.

U2 - 10.1038/nbt.1596

DO - 10.1038/nbt.1596

M3 - Journal article

C2 - 19997067

VL - 28

SP - 57

EP - 63

JO - Nature Biotechnology

JF - Nature Biotechnology

SN - 1087-0156

IS - 1

ER -

ID: 21338135