Genetically, human beings are 99.9% identical. That may seem impossible, considering the uniqueness in each and every one of us. But take note, this 0.1% of genetic difference is made up of 6.5 million DNA bases, which can be combined in so many different ways – resulting in the vast diversity in this world.

Despite the variations, the closer the ancestral population, the more similarities you will find in their genes. Researchers study the frequencies of DNA variations within similar groups, along with how those frequencies have changed over time and geographic location. Such studies help scientists recognize trends in a population, which can then be used to identify potential disease-causing variants. However, most of these genetic studies are based on European populations. This European bias has negative implications for risk prediction of diseases in Asian populations. This lack of ethnic diversity impedes our ability to accurately translate genetic research into clinical practice or public health policy. It also does not paint the full picture of the genetic architecture of human disease.

As such, the GenomeAsia100K Consortium sets out to sequence and analyze 100,000 Asian individuals’ genomes to help accelerate Asian population specific medical advances and precision medicine. The GenomeAsia 100K consortium is a non-profit a team of leading bioinformaticians and scientists in the field of population genetics. These experts will define the strategy for approaching this sizable project of sequencing 100,000 genomes. The pilot phase of the project, called GenomeAsia Pilot (GAsP), generated whole genome sequences of 1,739 individuals from 219 population groups across Asia.

Analyses carried out on the dataset were able to address various topics. One being the genetics of rare diseases, where the absence of an appropriate population reference dataset can lead to misclassifications and false disease associations. The researchers at GAsP showed that by including the GAsP dataset as a reference, they were able to better filter out the variants that did not meet the right specifications. For example, they were able to conclude that an HBB variant associated with β-thalassemia is found almost exclusively in south Asians and at lower frequency in southeast Asians.

The researchers also discovered novel genetic variants associated with cancer risk. For instance, they found 13 unique variants in 6 genes that have been implicated in cancer development. They also found that patients in Austronesian language-speaking populations from southeast Asia were more likely to develop Steven Johnson syndrome when treated with carbamazepine. Identification of Asian-specific variants that affect drug efficacy and safety will also be instrumental in the development of drug testing studies and drug treatment protocols.

The dataset from this pilot phase of the GenomeAsia project will be available to any qualified investigator. This is in support of the consortium’s goal – to facilitate and accelerate genetic studies in Asian populations by coordinating sequencing efforts among is members.

Wall, J.D., Stawiski, E.W., Ratan, A. et al. The GenomeAsia 100K Project enables genetic discoveries across Asia. Nature 576, 106–111 (2019)