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Nat Genet. 2018 Dec;50(12):1696-1704. doi: 10.1038/s41588-018-0250-5. Epub 2018 Nov 5.

Whole-genome sequencing of 175 Mongolians uncovers population-specific genetic architecture and gene flow throughout North and East Asia.

Bai H1,2, Guo X3,4,5, Narisu N6, Lan T3,4,5, Wu Q7, Xing Y8, Zhang Y3,5, Bond SR9, Pei Z10, Zhang Y8, Zhang D3,5, Jirimutu J11, Zhang D8, Yang X12, Morigenbatu M13, Zhang L8, Ding B3,5, Guan B14, Cao J8, Lu H3,5,15, Liu Y8, Li W3,5, Dang N3,5, Jiang M10, Wang S8, Xu H3,5, Wang D13, Liu C8, Luo X3,5, Gao Y1, Li X8, Wu Z4,12, Yang L7, Meng F8, Ning X3,5, Hashenqimuge H7, Wu K8, Wang B3,5, Suyalatu S1, Liu Y8, Ye C3,5, Wu H1, Leppälä K16, Li L8, Fang L3,5, Chen Y1, Xu W3,5,17, Li T8, Liu X3,5, Xu X3,5, Gignoux CR18, Yang H3,5,19, Brody LC20, Wang J3,4, Kristiansen K3,4, Burenbatu B21, Zhou H22, Yin Y23,24,25.

Author information

1
School of Life Science, Inner Mongolia University for the Nationalities, Tongliao, China.
2
Inner Mongolia Engineering Research Center of Personalized Medicine, Tongliao, China.
3
BGI-Shenzhen, Shenzhen, China.
4
Laboratory of Genomics and Molecular Biomedicine, Department of Biology, University of Copenhagen, Copenhagen, Denmark.
5
China National GeneBank, BGI-Shenzhen, Shenzhen, China.
6
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
7
Affiliated Hospital of Inner Mongolia University for the Nationalities, Tongliao, China.
8
College of Life Science, Inner Mongolia Agricultural University, Hohhot, China.
9
Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
10
College of Computer Science and Technology, Inner Mongolia University for the Nationalities, Tongliao, China.
11
College of Mathematics, Inner Mongolia University for the Nationalities, Tongliao, China.
12
BGI Genomics, BGI-Shenzhen, Shenzhen, China.
13
College of Mongolian Studies, Inner Mongolia University for the Nationalities, Tongliao, China.
14
Inner Mongolia International Mongolian Hospital, Hohhot, China.
15
Guangdong Provincial Key Laboratory of Genome Read and Write, Shenzhen, China.
16
Bioinformatics Research Centre, Aarhus University, Aarhus, Denmark.
17
College of Life Science and Technology, Huazhong Agricultural University, No.1 Shizishan Street, Wuhan, China.
18
Colorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
19
James D. Watson Institute of Genome Sciences, Hangzhou, China.
20
Gene and Environment Interaction Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
21
Affiliated Hospital of Inner Mongolia University for the Nationalities, Tongliao, China. brbt2013@163.com.
22
College of Life Science, Inner Mongolia Agricultural University, Hohhot, China. huanminzhou@263.net.
23
Laboratory of Genomics and Molecular Biomedicine, Department of Biology, University of Copenhagen, Copenhagen, Denmark. yinye@genomics.cn.
24
BGI Genomics, BGI-Shenzhen, Shenzhen, China. yinye@genomics.cn.
25
School of Life Science and Biotechnology, Dalian University of Technology, Dalian, China. yinye@genomics.cn.

Abstract

The genetic variation in Northern Asian populations is currently undersampled. To address this, we generated a new genetic variation reference panel by whole-genome sequencing of 175 ethnic Mongolians, representing six tribes. The cataloged variation in the panel shows strong population stratification among these tribes, which correlates with the diverse demographic histories in the region. Incorporating our results with the 1000 Genomes Project panel identifies derived alleles shared between Finns and Mongolians/Siberians, suggesting that substantial gene flow between northern Eurasian populations has occurred in the past. Furthermore, we highlight that North, East, and Southeast Asian populations are more aligned with each other than these groups are with South Asian and Oceanian populations.

PMID:
30397334
DOI:
10.1038/s41588-018-0250-5
[Indexed for MEDLINE]

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