KUALA LUMPUR, Nov 29 -- The Macrogen Inc and Seoul National University Bundang Hospital joint research team has released one of the largest Northeast Asian Reference Database (NARD).
In a statement, Macrogen said NARD involved whole-genome sequencing data and genetic mutation data of 1,779 individuals comprising 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 a higher level of accuracy, in terms of Northeast Asian genome analysis than other existing reference panels worldwide.
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 one per cent of Northeast Asian genome data has been included.
This lack of data makes it hard to obtain high accuracy when conducting a 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 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 genes that have an influence on the disease and quantifying the risk of the disease.
According to Distinguished Professor Jeong-Sun Seo of Seoul National University Bundang Hospital, a second reference panel from 10,000 individuals will be released early next year.
The result of the NARD study has been published in Genome Medicine at https://genomemedicine.biomedcentral.com/articles/10.1186/s13073-019-0677-z
-- BERNAMA
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