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

Autor:	Cong PK; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China., Bai WY; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China., Li JC; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.; National Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China.; Center for Medical Genetics & Hunan Key Laboratory, School of Life Sciences, Central South University, Changsha, Hunan, China., Yang MY; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China., Khederzadeh S; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China., Gai SR; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China., Li N; The High-Performance Computing Center, Westlake University, Hangzhou, Zhejiang, China., Liu YH; The High-Performance Computing Center, Westlake University, Hangzhou, Zhejiang, China., Yu SH; Clinical Genome Center, KingMed Diagnostics, Co., Ltd., Guangzhou, Guangdong, China., Zhao WW; Clinical Genome Center, KingMed Diagnostics, Co., Ltd., Guangzhou, Guangdong, China., Liu JQ; Clinical Genome Center, KingMed Diagnostics, Co., Ltd., Guangzhou, Guangdong, China., Sun Y; Clinical Genome Center, KingMed Diagnostics, Co., Ltd., Guangzhou, Guangdong, China., Zhu XW; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China., Zhao PP; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China., Xia JW; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China., Guan PL; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China., Qian Y; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China., Tao JG; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China., Xu L; WBBC Shandong Center, Binzhou Medical University, Yantai, Shandong, China., Tian G; WBBC Shandong Center, Binzhou Medical University, Yantai, Shandong, China., Wang PY; WBBC Shandong Center, Binzhou Medical University, Yantai, Shandong, China., Xie SY; WBBC Shandong Center, Binzhou Medical University, Yantai, Shandong, China., Qiu MC; WBBC Jiangxi Center, Jiangxi Medical College, Shangrao, Jiangxi, China., Liu KQ; WBBC Jiangxi Center, Jiangxi Medical College, Shangrao, Jiangxi, China., Tang BS; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China. bstang7398@163.com.; National Clinical Research Center for Geriatric Disorders, Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China. bstang7398@163.com., Zheng HF; Diseases & Population (DaP) Geninfo Lab, School of Life Sciences, Westlake University, Hangzhou, Zhejiang, China. zhenghoufeng@westlake.edu.cn.; Westlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, China. zhenghoufeng@westlake.edu.cn.; Institute of Basic Medical Sciences, Westlake Institute for Advanced Study, Hangzhou, Zhejiang, China. zhenghoufeng@westlake.edu.cn.
Jazyk:	angličtina
Zdroj:	Nature communications [Nat Commun] 2022 May 26; Vol. 13 (1), pp. 2939. Date of Electronic Publication: 2022 May 26.
DOI:	10.1038/s41467-022-30526-x
Abstrakt:	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. (© 2022. The Author(s).)
Databáze:	MEDLINE
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