The GenomeAsia 100K Project enables genetic discoveries across Asia

GenomeAsia100K Consortium

Research output: Contribution to journalArticlepeer-review

250 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)106-111
Number of pages6
JournalNature
Volume576
Issue number7785
DOIs
StatePublished - Dec 5 2019

ASJC Scopus subject areas

  • General

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