News Releases & Research Results Discovering genetic variations for genomic studies in populations across Asia: Whole-genome sequencing of over 200 population groups in 64 countries

The study was a result of a collaborative effort of the GenomeAsia100K Consortium which consists of participants across 64 countries in Asia. Project Leader Katsushi Tokunaga and Research Fellow Seik Soon Khor of National Center for Global Health and Medicine are part of the Consortium.

• Genomic samples were collected from 1,739 individuals from over 200 population groups across 64 countries in Asia. Whole-genome sequencing was performed to create a reference dataset for genomic variations.
• The dataset can be used to examine population structure and history and to better understand the significance of disease-associated variations. It may also be useful for the discovery of rare-disease-associated genes.
• The long-term goal of the GenomeAsia100K Consortium is to analyze genomes from 100,000 healthy individuals and patients across Asia.

This research project was supported by Platform Program for the Promotion of Genome Medicine of AMED.

The result of study was published in Nature on December 5.

Jeffrey D. Wall, et al. The GenomeAsia 100K Project: Enabling Genetic Discoveries Across Asia Nature

DOI：10.1038/s41586-019-1793-z