"Koreans differ from Americans by 40 million base pairs in DNA sequence"

UNIST Research Team Publishes Genome Data of 1,000 Koreans... Opens Path for Personalized Cancer and Disease Medical Analysis

UNIST Genome Industry Technology Center researchers. From the left, Professor Lee Se-min, Researcher Choi Yeon-song, Researcher Jeon Seong-won, Researcher Park Young-jun, Professor Park Jong-hwa.

[Asia Economy Yeongnam Reporting Headquarters Reporter Kim Yong-woo] A study has revealed that the genome of Koreans differs from that of Westerners by about 40 million base pairs.

The Genome Industry Technology Center at Ulsan National Institute of Science and Technology (UNIST) announced the results of the ‘Korea 1K’ study, which analyzed the genome information of 1,094 Koreans, in the international journal Science Advances on May 27.

According to the study, when comparing the Korean genome to the ‘Human Reference Standard Genome Map (Standard Genome)’ completed in 2003 based on Westerners, a total of 39,025,362 variations were found. This means that the genomes of about 1,000 Koreans differ from the human standard genome by approximately 40 million base pairs.

The standard genome was created based on British and American individuals, so it has limitations in accurately reflecting racial characteristics. In particular, 34.5% of the base mutations discovered in this ‘Korea 1K’ study were found to be unique, occurring only once among Koreans.

This is the first time that genome data from over 1,000 Koreans has been analyzed on such a large scale. Previously, only limited regions of the genome were analyzed. This study is the first data release as part of the ‘Genome Korea in Ulsan (Ulsan 10,000 Genome Project)’ declared in 2015, aiming to map all genetic diversity of Koreans.

By the end of this year, genome data from 10,000 individuals will be secured, constituting a so-called ‘National Genome Project’ in which all citizens can participate.

Improvement in Cancer Analysis for Koreans Using This Data.

This study also showed higher accuracy in predicting somatic genetic variations related to cancer in Koreans compared to the existing standard genome.

When comparing the genetic information of Korean cancer patients to the normal population of all humanity, the mutated regions were judged to have low correlation with cancer. However, when compared to the normal Korean population, a high correlation was found. This means that precise, customized medical analysis for Korean diseases can be conducted to develop drugs and treatments.

The research team explained, “To perform gene therapy, it is necessary to know the target sites, and this analysis confirmed that there are differences from international standards. Korea1K can be used for Korean-customized disease research, making it highly practical with both standardization and applicability.”

Lee Se-min, director of the Genome Industry Technology Center, said, “To properly explain the functions and roles of individual-specific or low-frequency rare genetic variations in Koreans, it is essential to secure a much larger genome big data.”

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