The GenomeAsia 100K Project enables genetic discoveries across Asia

TLDR

Human genetic studies have largely excluded non‑European populations, limiting dataset diversity and medical relevance, underscoring the need for population‑specific reference genomes and GWAS in diverse groups. This paper outlines the pilot phase of the GenomeAsia 100K Project. The project generated a whole‑genome sequencing reference set of 1,739 individuals from 219 population groups across 64 Asian countries, catalogued variation, population structure, disease associations and founder effects, and evaluated its utility for imputation to support genetic studies worldwide.

Abstract

Abstract 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.