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January 26, 2020 – An effort to map thousends of genomes across Asia has certainly the potential to find novel gene variants affecting disease and responses to drugs, and to reveal the complex origins of Asian populations.
In a pilot study, researchers looked at more than 1’200 whole-genome sequences from individuals representing hundreds of population groups across Asia, and compared them with existing sequence data from almost 600 African, European and American individuals, according to a new report in Nature Online.
Individuals of Asian descent, who make up about half the global population, have been severely underrepresented in human genetic studies. As a side note, the same applies to individuals of African descent as well. This limits the applicability of existing results for a large part of the world.
The GenomeAsia 100K project seeks to address this disparity. A non-profit international consortium established in 2016, its members include Singapore’s Nanyang Technological University and industry partners such as South Korean biotech firm Macrogen and California-based MedGenome Inc. The consortium’s initial goal is to sequence the genomes of 100’000 Asians and make the data available through a public database for use by researchers and pharmaceutical companies.
At the beginning of the this project the assumption was that Asian genetic variation would be more or less a subset of what’s already been deciphered in the European population. That turned out to be not true.
For the pilot study, the consortium team examined genome sequences representing people living in dozens of countries including China, India, Indonesia, Japan, the Philippines, Malaysia, Mongolia, Pakistan, Papua New Guinea and Russia, as well as samples representing minorities living in remote and isolated communities or belonging to various caste and language groups. The team found that nearly a quarter of the protein-altering gene variants in their Asian dataset were not present in currently available public databases such as the 1000 Genomes Project and the Exome Aggregation Consortium. Most of the new variants were rare, yet more than 140’000 variants occurred in more than 1% of people in specific populations.