Singapore 10,000 Genomes Project.

Genetic variation plays an important role in a variety of human diseases and quantitative traits. Due to different genetic makeups and environmental exposures, many genetic findings have shown population-specific characteristics, highlighting the importance of population diversity in human genetic studies. The Singapore population consists of three major ethnic groups, Chinese, Malay, and Indian, which together represent >80% of the Asian population. To empower human genetic studies in Asian populations, the SG10K project will perform whole-genome sequencing (WGS) of 10,000 Singaporeans to 12-13x coverage. Coupling with powerful bioinformatics tools, our study design will enable high-quality genotype calling for a full frequency spectrum of genetic variants segregated in the population. Our main objectives are to (1) comprehensively characterize genetic variation in Singapore population; (2) create a WGS reference panel for accurate genotype imputation in Singapore population; and (3) generate a large control dataset for WGS-based genetic association study of diseases. Upon completion, this study will provide valuable genetic information to facilitate clinical and pharmaceutical research in Singapore populations and will empower genetic studies of Singapore and Asian-centric diseases.
This project is a national effort across multiple institutions. Our collaboration partners include SingHealth Duke-NUS Institute of Precision Medicine (PRISM), Singapore Eye Research Institute (SERI), Centre for Personalised and Precision Health (CPPH), National University Health System (NUHS) and several Translational and Clinical Research Flagship Programmes (cardiovascular disease, Parkinson disease, etc.).