Massive genome mapping project in Asia reveals large genetic diversity

(From left) Nanyang Technological University's Professor Stephan C. Schuster and Assistant Professor Hie Lim Kim, and executive chairman of GenomeAsia 100K Mahesh Pratapneni with DNA sequencers at NTU. PHOTO: NANYANG TECHNOLOGICAL UNIVERSITY

SINGAPORE - An Asia-wide genome mapping project has discovered at least 10 ancestral lineages within Asia, revealing a large genetic diversity that far exceeds other areas such as northern Europe, which only has a single ancestral lineage that traces back to one common ancestor.

This study offers the widest coverage of genetic diversity in Asia, where the DNA of 1,739 people across 64 different countries have been analysed. The paper will be published in the research journal Nature on Thursday (Dec 5).

Asians make up over 40 per cent of the world's population, yet just 6 per cent of the world's recorded genome sequences were from Asians prior to this study. A genome is the total sum of an organism's DNA.

The study was conducted by GenomeAsia 100K, a non-profit consortium launched in 2016 and hosted by Nanyang Technological University (NTU). It comprises three industry members from South Korea, India and the United States.

The consortium aims to sequence 100,000 genomes of people living in Asia.

This study is especially significant in the area of healthcare and personalised medicine, where drug combinations can be tailored to one's genes to ensure optimum treatment.

"Understanding these differences is the most important source of clues that we have for driving the discovery of innovative new medicines," explained Dr Andrew Peterson, an author of the paper.

The consortium's scientific chairman and co-leader of the study, NTU Professor Stephan C. Schuster, said: "A lot of projects (in genetic studies) are concentrated in the Western countries and little is known about Asians as well as those living in remote and isolated communities. The vast genetic differences in Asia is significantly more than expected."

Climate differences and migration history have also been found to shape the genetic make-up of Asia.

The database was formed from analysis of new blood and saliva samples as well as existing samples that were collected over the past three decades.

These samples include 598 genomes from India, 156 from Malaysia, 152 from South Korea, 113 from Pakistan, 100 from Mongolia, 70 from China, 70 from Papua New Guinea, 68 from Indonesia, 52 from the Philippines, 35 from Japan, and 32 from Russia.

The DNA was extracted from the samples before being sequenced. The digital sequencing data was then sent to Singapore for processing and storage.

After a comprehensive genetic map has been established, the team can then determine which genetic variants are medically relevant.

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