Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore

Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore
Title:
Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore
Other Titles:
Cell
Publication Date:
17 October 2019
Citation:
Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore Wu, DegangAckers-Johnson, Matthew Andrew et al. Cell, Volume 179, Issue 3, 736 - 749.e15
Abstract:
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.
License type:
PublisherCopyrights
Funding Info:
This study was supported by Singapore’s A*STAR (Core Funding and IAF-PP H17/01/a0/007), Biomedical Research Council (SPF2014/001, SPF2013/002, SPF2014/003, SPF2014/004, SPF2014/005), National Medical Research Council (CIRG/1371/2013, CIRG/1417/2015, CIRG/1488/2018, CSA-SI/0012/2017, CG/017/2013, CG/M006/2017_NHCS, TCR/013-NNI/2014, STaR/0011/2012, STaR2013/001, STaR/014/2013, STaR/0026/2015, TCR/006-NUHS/2013, TCR/012-NUHS/2014, TCR/004-NUS/2008, TCR/012-NUHS/2014; Centre Grants 2010-13 and 2013-2017), National Research Foundation Singapore (NRFF2016-03), National University of Singapore, SingHealth and Duke-NUS, Alexandra Health Small Innovative Grant (SIGII/15203), and funding from Huazhong University of Science and Technology, Tanoto Foundation, Lee Foundation, Boston Scientific Investigator Sponsored Research Program and Bayer, the National Science Foundation (DEB-1753489), and the Alfred P. Sloan Foundation.
Description:
ISSN:
0092-8674
1097-4172
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