First Korean Genome Sequenced

This genome sequence, the most contiguous and complete human genome mapped to date, may be beneficial to the field of precision medicine.

AsianScientist (Oct. 21, 2016) – What secrets lie in the genes of an Asian person? Researchers in South Korea have attempted to find out by sequencing the genome of a Korean person, producing the most contiguous and complete human genome mapped to date.

Although the human genome has been decoded before, the sequence is far from complete, varies across populations and has many gaps. Furthermore, there is a lack of representation of Asian genomes. This study, published in Nature, provides a population-specific reference genome, and vital data for genetic scientists generally.

According to corresponding author Dr. Seo Jeong-Sun from Seoul National University in South Korea, this Asian reference genome is also independent of the human reference genome constructed by the Human Genome Sequencing Consortium. Seo added that the research team used a combination of single-molecule real-time sequencing and next-generation mapping, which are recently-developed genome sequencing and assembly technologies, to put together a reference genome with higher resolution and fewer gaps.

“Using the Asian reference genome, we discovered thousands of structural rearrangements that were previously undetected,” Seo told Asian Scientist Magazine. “In addition, the Asian reference genome also enabled the identification of changes in the genomic architecture that were more commonly shared by Asian individuals.”

From this new sequence, scientists may identify the parts that are unique to the Korean population, and to Asian populations generally. Information like this could be beneficial to the field of precision medicine, in particular, with drugs that are tailored for the genetic makeup of an individual. This is important when considering the fact that Asian patients may respond differently to drugs and medicines than their non-Asian counterparts.

As for future plans for this research, Seo said that the research team intends to demonstrate the functional significance of the newly-discovered structural rearrangements in clinical practice.

“Concurrently, the Asian reference genome will be continually updated to better present the genomic architecture of Asian individuals,” he added.

The article can be found at: Seo et al. (2016) De novo Assembly and Phasing of a Korean Human Genome.


Copyright: Asian Scientist Magazine; Photo: Pixabay.
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Coming from a design background, Filzah brings a fresh perspective to science communications. She is particularly interested in healthcare and technology.

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