Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore.
Cell
; 179(3): 736-749.e15, 2019 10 17.
Article
em En
| MEDLINE
| ID: mdl-31626772
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 â¼24,800 years ago and experienced significant admixture with East Asians â¼1,700 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.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Seleção Genética
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Genoma Humano
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Sequenciamento Completo do Genoma
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Genética Populacional
Tipo de estudo:
Prognostic_studies
Limite:
Female
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Humans
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Male
País como assunto:
Asia
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article