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. 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

Haihua Bai #  1   2 , Xiaosen Guo #  3   4   5 , Narisu Narisu #  6 , Tianming Lan #  3   4   5 , Qizhu Wu #  7 , Yanping Xing  8 , Yong Zhang  3   5 , Stephen R Bond  9 , Zhili Pei  10 , Yanru Zhang  8 , Dandan Zhang  3   5 , Jirimutu Jirimutu  11 , Dong Zhang  8 , Xukui Yang  12 , Morigenbatu Morigenbatu  13 , Li Zhang  8 , Bingyi Ding  3   5 , Baozhu Guan  14 , Junwei Cao  8 , Haorong Lu  3   5   15 , Yiyi Liu  8 , Wangsheng Li  3   5 , Ningxin Dang  3   5 , Mingyang Jiang  10 , Shenyuan Wang  8 , Huixin Xu  3   5 , Dingzhu Wang  13 , Chunxia Liu  8 , Xin Luo  3   5 , Ying Gao  1 , Xueqiong Li  8 , Zongze Wu  4   12 , Liqing Yang  7 , Fanhua Meng  8 , Xiaolian Ning  3   5 , Hashenqimuge Hashenqimuge  7 , Kaifeng Wu  8 , Bo Wang  3   5 , Suyalatu Suyalatu  1 , Yingchun Liu  8 , Chen Ye  3   5 , Huiguang Wu  1 , Kalle Leppälä  16 , Lu Li  8 , Lin Fang  3   5 , Yujie Chen  1 , Wenhao Xu  3   5   17 , Tao Li  8 , Xin Liu  3   5 , Xun Xu  3   5 , Christopher R Gignoux  18 , Huanming Yang  3   5   19 , Lawrence C Brody  20 , Jun Wang  3   4 , Karsten Kristiansen  3   4 , Burenbatu Burenbatu  21 , Huanmin Zhou  22 , Ye Yin  23   24   25
Affiliations

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

Haihua Bai et al. Nat Genet. 2018 Dec.

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.

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