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Title: Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore
Authors: Wu, D.
Dou, J.
Chai, X.
Bellis, C.
Wilm, A.
Shih, C.C.
Soon, W.W.J.
Bertin, N.
Lin, C.B.
Khor, C.C.
DeGiorgio, M.
Cheng, S.
Bao, L.
Karnani, N. 
Hwang, W.Y.K.
Davila, S. 
Tan, P. 
Shabbir, A.
Moh, A.
Tan, E.-K. 
Foo, R.S.Y. 
Goh, L.L.
Leong, K.P.
Foo, R.S.Y.
Lam, C.S.P. 
Richards, A.M. 
Cheng, C.-Y. 
Aung, T. 
Wong, T.Y. 
Ng, H.H. 
SG10K Consortium
Liu, J. 
Wang, C.
Keywords: admixture
Asian populations
demographic history
genetic diversity
natural selection
population structure
precision medicine
whole-genome sequencing
Issue Date: 2019
Publisher: Cell Press
Citation: Wu, D., Dou, J., Chai, X., Bellis, C., Wilm, A., Shih, C.C., Soon, W.W.J., Bertin, N., Lin, C.B., Khor, C.C., DeGiorgio, M., Cheng, S., Bao, L., Karnani, N., Hwang, W.Y.K., Davila, S., Tan, P., Shabbir, A., Moh, A., Tan, E.-K., Foo, R.S.Y., Goh, L.L., Leong, K.P., Foo, R.S.Y., Lam, C.S.P., Richards, A.M., Cheng, C.-Y., Aung, T., Wong, T.Y., Ng, H.H., SG10K Consortium, Liu, J., Wang, C. (2019). Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore. Cell 179 (3) : 736-749. ScholarBank@NUS Repository.
Abstract: 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. © 2019 Elsevier Inc.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. © 2019 Elsevier Inc.
Source Title: Cell
ISSN: 00928674
DOI: 10.1016/j.cell.2019.09.019
Appears in Collections:Staff Publications

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