Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Pei-Kuan CongWei-Yang BaiJin-Chen LiMeng-Yuan YangSaber KhederzadehSi-Rui GaiNan LiYu-Heng LiuShi-Hui YuWei-Wei ZhaoJun-Quan LiuYi SunXiao-Wei ZhuPian-Pian ZhaoJiang-Wei XiaPeng-Lin GuanYu QianJian-Guo TaoLin XuGeng TianPing-Yu WangShu-Yang XieMo-Chang QiuKe-Qi LiuBei-Sha TangHou-Feng ZhengPublished in: Nature communications (2022)
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.
Keyphrases
- genome wide
- copy number
- high density
- dna methylation
- quality improvement
- study protocol
- randomized controlled trial
- gene expression
- electronic health record
- big data
- squamous cell carcinoma
- machine learning
- body mass index
- high throughput
- preterm birth
- bioinformatics analysis
- deep learning
- weight loss
- transcription factor
- data analysis
- alcohol consumption