Cell · 2019
Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Wu Degang, Dou Jinzhuang, Chai Xiaoran, Bellis Claire, Wilm Andreas, Shih Chih Chuan, Soon Wendy Wei Jia, Bertin Nicolas, Lin Clarabelle Bitong, Khor Chiea Chuen, DeGiorgio Michael, Cheng Shanshan, Bao Li, Karnani Neerja, Hwang William Ying Khee, Davila Sonia, Tan Patrick, Shabbir Asim, Moh Angela, Tan Eng-King, Foo Jia Nee, Goh Liuh Ling, Leong Khai Pang, Foo Roger S Y, Lam Carolyn Su Ping, Richards Arthur Mark, Cheng Ching-Yu, Aung Tin, Wong Tien Yin, Ng Huck Hui, SG10K Consortium, Liu Jianjun, Wang Chaolong
Аннотация
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.