Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project

Pei-Kuan Cong, Wei-Yang Bai, Jin-Chen Li, Meng-Yuan Yang, Saber Khederzadeh, Si-Rui Gai, Nan Li, Yu-Heng Liu, Shi-Hui Yu, Wei-Wei Zhao, Jun-Quan Liu, Yi Sun, Xiao-Wei Zhu, Pian-Pian Zhao, Jiang-Wei Xia, Peng-Lin Guan, Yu Qian, Jian-Guo Tao, Lin Xu, Geng Tian, Ping-Yu Wang, Shu-Yang Xie, Mo-Chang Qiu, Ke-Qi Liu, Bei-Sha Tang () and Hou-Feng Zheng ()
Additional contact information
Pei-Kuan Cong: Westlake University
Wei-Yang Bai: Westlake University
Jin-Chen Li: Xiangya Hospital, Central South University
Meng-Yuan Yang: Westlake University
Saber Khederzadeh: Westlake University
Si-Rui Gai: Westlake University
Nan Li: Westlake University
Yu-Heng Liu: Westlake University
Shi-Hui Yu: KingMed Diagnostics, Co., Ltd.
Wei-Wei Zhao: KingMed Diagnostics, Co., Ltd.
Jun-Quan Liu: KingMed Diagnostics, Co., Ltd.
Yi Sun: KingMed Diagnostics, Co., Ltd.
Xiao-Wei Zhu: Westlake University
Pian-Pian Zhao: Westlake University
Jiang-Wei Xia: Westlake University
Peng-Lin Guan: Westlake University
Yu Qian: Westlake University
Jian-Guo Tao: Westlake University
Lin Xu: Binzhou Medical University
Geng Tian: Binzhou Medical University
Ping-Yu Wang: Binzhou Medical University
Shu-Yang Xie: Binzhou Medical University
Mo-Chang Qiu: Jiangxi Medical College
Ke-Qi Liu: Jiangxi Medical College
Bei-Sha Tang: Xiangya Hospital, Central South University
Hou-Feng Zheng: Westlake University

Nature Communications, 2022, vol. 13, issue 1, 1-15

Abstract: Abstract We initiate the Westlake BioBank for Chinese (WBBC) pilot project with 4,535 whole-genome sequencing (WGS) individuals and 5,841 high-density genotyping individuals, and identify 81.5 million SNPs and INDELs, of which 38.5% are absent in dbSNP Build 151. We provide a population-specific reference panel and an online imputation server ( https://wbbc.westlake.edu.cn/ ) which could yield substantial improvement of imputation performance in Chinese population, especially for low-frequency and rare variants. By analyzing the singleton density of the WGS data, we find selection signatures in SNX29, DNAH1 and WDR1 genes, and the derived alleles of the alcohol metabolism genes (ADH1A and ADH1B) emerge around 7,000 years ago and tend to be more common from 4,000 years ago in East Asia. Genetic evidence supports the corresponding geographical boundaries of the Qinling-Huaihe Line and Nanling Mountains, which separate the Han Chinese into subgroups, and we reveal that North Han was more homogeneous than South Han.

Date: 2022
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DOI: 10.1038/s41467-022-30526-x

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