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Cell, 2019-10, Vol.179 (3), p.736-749.e15
2019
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Autor(en) / Beteiligte
Titel
Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore
Ist Teil von
  • Cell, 2019-10, Vol.179 (3), p.736-749.e15
Ort / Verlag
United States: Elsevier Inc
Erscheinungsjahr
2019
Quelle
MEDLINE
Beschreibungen/Notizen
  • 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.

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