New data detailing the genome sequence of a Korean individual was published in the scientific journal Nature on Thursday, offering new reference points specific to the Asian population for genetic scientists around the world.
Titled “De Novo Assembly and Phasing of a Korean Human Genome,” the new academic research was compiled by the Seoul National University’s Genomic Medicine Institute in partnership with Korean genetic sequencing firm Macrogen.
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A graphic of a human genome based on a Korean individual, published in “Nature” on Thursday (Macrogen) |
Based on the latest genome sequencing and assembly technologies, the given data offers the “most continuous depiction of the human genome mapped to date,” SNU-GMI and Macrogen said in a joint statement.
Led by SNU-GMI Director and Macrogen Chairman Seo Jeong-sun, the joint research team combined single-molecule real-time sequencing and next-generation mapping technologies to narrow down the gaps created during the sequencing process to generate a higher-resolution reference genome.
Most importantly, the new research presents to scientists rare genetic data specified to an individual of Asian ethnicity, giving them an opportunity to identify genetic information unique to the Korean and the broader Asian population, the two bodies said.
There were around 18,000 genetic variations between the conventionally used GRCh38 human reference genome and the newly generated reference genome based on an Asian individual, suggesting vast genetic differences exist among different ethnicities, they added.
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SNU-SMI Director and Macrogen Chairman Seo Jeong-sun (Ahn Hoon/The Korea Herald) |
“Although many people have had their genomes sequenced, non-Europeans are significantly under-represented in the overall pool,” SNU-SMI and Macrogen said. “This new sequence gives scientists the opportunity to identify the parts of the sequence that are unique to the Korean population and to Asian populations generally.”
Looking ahead, the two bodies said that a detailed depiction and understanding of the human genome like the one recently presented, could drive new advancements in the field of precision medicine, in which health care will be tailored toward the genetic makeup of an individual.
To view the article online, visit
http://dx.doi.org/10.1038/nature20098.
By Sohn Ji-young (
jys@heraldcorp.com)
