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Wu, Degang; Dou, Jinzhuang; Bellis, Claire; Wilm, Andreas; Shih, Chih Chuan; Soon, Wendy Wei Jia; Khor, Chiea Chuen; DeGiorgio, Michael; Cheng, Shanshan; Bao, Li; Hwang, William Ying Khee; Davila, Sonia; Tan, Patrick; Moh, Angela; Foo, Jia Nee; Goh, Liuh Ling; Leong, Khai Pang; Foo, Roger S.Y.; Lam, Carolyn Su Ping; Richards, Arthur Mark; Cheng, Ching-Yu; Wong, Tien Yin; Ng, Huck Hui; Ackers-Johnson, Matthew Andrew; Aliwarga, Edita; Ban, Kenneth Hon Kim; Chambers, John C.; Chan, Dana Leng Hui; Chan, Cheryl Xue Li; Chee, Miao Ling; Chen, Yunxin; Chew, Elaine Guo Yan; Chew, Wen Jie; Chong, Jenny Pek Ching; Dorajoo, Rajkumar; Goh, Rick Siow Mong; Irwan, Ishak D.; Jaufeerally, Fazlur; Jeyakani, Justin; Koh, John Tat Hung; Koh, Jia Yu; Krishnaswamy, Pavitra; Kuan, Jyn Ling; Kumari, Neelam; Lee, Ai Shan; Lee, Seow Eng; Lee, Yen Ling; Leong, See Ting; Li, Zheng; Liew, Jun Xian; Lim, Weng Khong; Lim, Chia Wei; Lim, Tingsen Benson; Lim, Choon Kiat; Lok, Au Wing; Chin, Calvin W.L.; Majithia, Shivani; Maurer-Stroh, Sebastian; Meah, Wee Yang; Mok, Shi Qi; Ng, Pauline; Ng, Sarah B.; Ng, Zhenyuan; Ng, Jessica Yan Xia; Ng, Ebonne; Nusinovici, Simon; Ong, Chin Thing; Pan, Bangfen; Pedergnana, Vincent; Poh, Stanley; Prabhakar, Shyam; Prakash, Kumar M.; Sabanayagam, Charumathi; See, Wei Qiang; Sia, Yee Yen; Sim, Xueling; Sim, Wey Cheng; So, Jimmy; Soon, Dinna K.N.; Tai, E. Shyong; Tan, Louis C.S.; Tan, Hong Chang; Tan, Wilson Lek Wen; Tandiono, Moses; Tay, Amanda; Thakur, Sahil; Tham, Yih Chung; Tiang, Zenia; Toh, Grace Li-Xian; Tsai, Pi Kuang; Veeravalli, Lavanya; Wang, Ling; Wang, Min Rui; Wong, Wing-Cheong; Yeo, Khung Keong; Zhang, Liang; Zhai, Weiwei; Zhao, Yi; Liu, Jianjun; Wang, Chaolong
Cell, 10/2019, Volume: 179, Issue: 3Journal Article
Underrepresentation of Asian genomes has hindered population and medical genetics research on Asians, leading to population disparities in precision medicine. By whole-genome sequencing of 4,810 Singapore Chinese, Malays, and Indians, we found 98.3 million SNPs and small insertions or deletions, over half of which are novel. Population structure analysis demonstrated great representation of Asian genetic diversity by three ethnicities in Singapore and revealed a Malay-related novel ancestry component. Furthermore, demographic inference suggested that Malays split from Chinese ∼24,800 years ago and experienced significant admixture with East Asians ∼1,700 years ago, coinciding with the Austronesian expansion. Additionally, we identified 20 candidate loci for natural selection, 14 of which harbored robust associations with complex traits and diseases. Finally, we show that our data can substantially improve genotype imputation in diverse Asian and Oceanian populations. These results highlight the value of our data as a resource to empower human genetics discovery across broad geographic regions. Display omitted •Discovery of 52 million novel variants by 13.7× WGS of 4,810 Singaporeans•Insights into population structure and evolutionary history of Asians•Identification of 20 loci under selection that are enriched for GWAS signals•Substantial improvement of imputation in diverse Asian and Oceanian populations Because of Singapore’s unique history of immigration, whole-genome sequence analysis of 4,810 Singaporeans provides a snapshot of the genetic diversity across East, Southeast, and South Asia.
