GenomeAsia100K Consortium. Nature https://doi.org/10.1038/s41586-019-1793-z (2019).

In spite of its large number of populations, genomic data from Asian people are under-represented in reference genome datasets. This poses challenges in medical genetic studies of Asian people, as well as hinders a detailed understanding of their demographic history. The GenomeAsia100K Consortium aims to “facilitate and accelerate genetic studies in Asian populations by coordinating sequencing efforts among its members.” In their GenomeAsia Pilot (GAsP) project, 1,267 whole-genome sequences were generated with high coverage. By including additional human genome sequences from previous sequencing studies, they built a reference dataset with 1,739 individuals from 219 population groups and 64 countries across Asia. Analyzing this GAsP dataset revealed ancestries and founder effects for different Asian populations. The rich information about genetic variation in Asian people also helps improve accuracy in pinpointing disease-relevant variants in Asian populations.