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The GenomeAsia 100K Project

Genes, that forms the basis of our core, have always been mysterious and intriguing for our researchers. Every now and then, our researchers do their best to unravel the mystery that revolves around genes and the GenomeAsia 100K Project is another step in this direction. Similar projects, that include Ashkenazi Jews, Netherlands, Iceland population are also being carried on worldwide. Large Biobanks are also being established, for example, Biobank Japan, China Kadoorie Biobank, etc. This project, The GenomeAsia 100K Project, thrives to achieve the goal to collect genomic data regarding Asians to facilitate genetic studies in Asia.

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About The GenomeAsia 100K Project

Various Asian countries were the source of the genomic data. 1,739 individuals of 219 population groups and 64 countries across Asia contributed to the data set. The data differentiates the population-specific variations to look into the efficiency of the imputation of variants that are not directly genotyped and extend GWAS- Genome-Wide Association Studies. This project explores disease-associated loci, as an initial comparison of the difference between population.

The data produced by this project is helpful in localizing the disease-associated genes of rare diseases like cancer, B- Thalassemia, etc. The data set also shows the loss of function alleles found in the GAsP Project.

The GAsP Data set

Around 80% of the sample comes from Asia. It also includes sequences from Africa, European, American Samples.

Number of sequences Country

Why the project?

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Population Admixture

Asia is so diverse and the inhabitants also share the same diversity. The gene flow present here is vast and provides bountiful unique data for our researchers. This project is conducted to understand the population complexities, its substructure that varies regionally. For example, it confirmed that the human classified group, called Negrito group from countries like the Philippines, India and Malaysia, is genetically more related to their geographical neighbors than other Negrito group(s). This suggests that dark skin color is probably an environmental adaptation and not an indicator of shared ancestry. They have also studied Denisovan ancestry, Aeta ancestors and admixture events that occurred, which lead to the changes in the population followed by the events.

Medical Application

With the ever-evolving genes, to grasp the root cause of diseases is a complex problem that every doctor faces. To make a bit easier for this project, The GenomeAisa 100K Project has conducted numerous tests to help the cause. Why a certain type of disease is found to occur in a specific population and not in the rest of it? This study has found out genes that are related to the cause of diseases in specific populations. For example, the HBB variant associated with B- Thalassemia is found almost exclusively in South Asians and less in frequency in South-east Asians. In cancer, 13 unique variants in genes from 17 samples are also discovered. It is also used to check how genetic variants affect disease susceptibility and drug response.

Founder population, Human Knockouts, Imputation panel are other fields that this project associated with.


Genome sequencing makes it a bit easier to understand what lies beneath the surface. This project is beneficial in many ways as discussed above. The main goal is to achieve a speedy advancement in the treatment of Asians. It also focuses on understanding rare diseases like cancer, heart diseases that pose a great risk to humanity. To know more check out the link: https://www.nature.com/articles/s41586-019-1793-z

Reference: Stawiski, E., and A. Peterson. “The GenomeAsia 100K Pilot Project: Enabling Medically Relevant Genetic Discoveries Across Asia.” EUROPEAN JOURNAL OF HUMAN GENETICS. Vol. 27. MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND: NATURE PUBLISHING GROUP, 2019.

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