Macrogen: Successful Construction of the Largest Northeast Asian Reference Panel

• Reference panel expected to contribute to discover the Northeast Asian specific illness-related genes, and to develop tailored diagnosis method
• A second reference panel from 10,000 individuals will release early next year

SEOUL, South Korea--(BUSINESS WIRE)-- The joint research team from Seoul National University Bundang Hospital and Macrogen (www.macrogen.com) (KOSDAQ: 038290) announced the release of one of the largest Northeast Asian Reference Database (NARD, https://nard.macrogen.com/). The result of the NARD study has been published in Genome Medicine.
https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-019-0677-z

NARD has been known as a precious and essential oil that Adam from the Bible collected from the flowering plant in the Garden of Eden. The research team wants to emphasize the importance of the reference panel, so named it NARD.

NARD includes whole-genome sequencing data and genetic mutation data of 1,779 individuals—850 Koreans, 384 Mongolians, 396 Japanese, 91 Chinese, and 58 Hong Kongese. This is the largest reference panel that represents Korea, Mongolia, China, and Japan. In addition, NARD can provide higher level of accuracy in terms of Northeast Asian genome analysis than other existing reference panels around the world.

The panel constructed from the Haplotype Reference Consortium, which has been known as the largest publicly available reference panel in the world, comprises mostly European races, but only 1% of Northeast Asian genome data has been included. This lack of data makes it hard to obtain high accuracy when conducting genome-wide association study (GWAS) for Northeast Asians, thus the need to compile a large Northeast Asian reference panel has been highlighted.

The research team expects NARD will improve the accuracy of imputation techniques in GWAS, and will play an important role in disease prediction based on polygenic risk scores (PRS). The PRS can predict the occurrence of diseases, which are deduced from the imputation technique, throughout identifying the location of hundreds of the genes that have an influence on the disease and quantifying the risk of the disease. In other words, if the accuracy of the imputation results using a large reference panel is high, high accuracy PRS results will do so.

The research team identified that, for the first time, each Northeast Asian country has specific genome configurations. In fact, the Korean genome configuration was clearly differentiated from those other Northeast Asians. These results have brought a need for the construction of reference panels not only for continents but for individual countries as well. Most importantly, the result scientifically proved the need and significance of a reference panel for Korean.

Distinguished Professor Jeong-Sun Seo of Seoul National University Bundang Hospital commented, “The study not only identified the genetic characteristics of Northeast Asians, but also successfully constructed a reference panel, which accuracy is unmatched worldwide.” He added, “We will release a second Northeast Asian reference panel from 10,000 individuals early next year. Therefore, these two reference panels will greatly contribute to discovering disease-related genes in Northeast Asians and predicting illnesses.”

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