The GenomeAsia 100K Project enables genetic discoveries across Asia.


Journal Article

The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world's population. Population-specific reference genome datasets as well as genome-wide association studies in diverse populations are needed to address this issue. Here we describe the pilot phase of the GenomeAsia 100K Project. This includes a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 countries across Asia. We catalogue genetic variation, population structure, disease associations and founder effects. We also explore the use of this dataset in imputation, to facilitate genetic studies in populations across Asia and worldwide.

Full Text

Cited Authors

  • GenomeAsia100K Consortium,

Published Date

  • December 2019

Published In

Volume / Issue

  • 576 / 7785

Start / End Page

  • 106 - 111

PubMed ID

  • 31802016

Pubmed Central ID

  • 31802016

Electronic International Standard Serial Number (EISSN)

  • 1476-4687

Digital Object Identifier (DOI)

  • 10.1038/s41586-019-1793-z


  • eng

Conference Location

  • England