作者
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, Hou-Feng Zheng
发表日期
2022/5/26
期刊
Nature Communications
卷号
13
期号
1
页码范围
2939
出版商
Nature Publishing Group UK
简介
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 …
学术搜索中的文章
PK Cong, WY Bai, JC Li, MY Yang, S Khederzadeh… - Nature Communications, 2022