The GenomeAsia 100K Project enables genetic discoveries across Asia

Authors

Jeffrey D. Wall, University of California, San Francisco
Eric W. Stawiski, Genentech Incorporated
Aakrosh Ratan, University of Virginia School of Medicine
Hie Lim Kim, Asian School of the Environment
Changhoon Kim, Macrogen, Inc.
Ravi Gupta, MedGenome Labs Ltd.
Kushal Suryamohan, Genentech Incorporated
Elena S. Gusareva, Nanyang Technological University
Rikky Wenang Purbojati, Nanyang Technological University
Tushar Bhangale, Genentech Incorporated
Vadim Stepanov, The Research Institute of Medical Genetics of the Tomsk National Research Medical Center of the Russian Academy of Sciences
Vladimir Kharkov, The Research Institute of Medical Genetics of the Tomsk National Research Medical Center of the Russian Academy of Sciences
Markus S. Schröder, Genentech Incorporated
Vedam Ramprasad, MedGenome Labs Ltd.
Jennifer Tom, Genentech Incorporated

Article Type

Research Article

Publication Title

Nature

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.

First Page

106

Last Page

111

DOI

10.1038/s41586-019-1793-z

Publication Date

12-5-2019

Comments

Open Access, Hybrid Gold, Green

Recommended Citation

Wall, Jeffrey D.; Stawiski, Eric W.; Ratan, Aakrosh; Kim, Hie Lim; Kim, Changhoon; Gupta, Ravi; Suryamohan, Kushal; Gusareva, Elena S.; Purbojati, Rikky Wenang; Bhangale, Tushar; Stepanov, Vadim; Kharkov, Vladimir; Schröder, Markus S.; Ramprasad, Vedam; and Tom, Jennifer, "The GenomeAsia 100K Project enables genetic discoveries across Asia" (2019). Journal Articles. 565.
https://digitalcommons.isical.ac.in/journal-articles/565