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Introduction


In order to discover and verify Korean genetic variants (SNPs, indels, CNVs), the genome sequences must be obtained. A database containing reference gene sequences must be built to discover genetic traits specific for the Korean population. The reference Korean genome is essential for discovering Korean specific biomarkers and studying genetic diseases relevant to the Korean population (currently, NCBI's CEU is used as a reference genome). The discovery of novel genetic variants among the Korean population and their frequencies are essential to advance genetic research in Korea. The Center for Genome Science of the National Research Institute of Health (NIH) and the Center for Disease Control and prevention (CDC) has managed the Korean Reference Genome (KRG) project in 2012. We have published our website with whole genome sequencing on 622 Korean individuals and identified more than 27 million SNVs from our population in 2015, and additionally 1100 Korean individuals (32 million SNVs) in 2016. A large proportion of the variants were newly detected in this project.
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