A database of 5,305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population

Abstract

Despite substantial advances in disease genetics, studies to date have largely focused on individuals of European descent, limiting further discoveries of novel functional genetic variants in other ethnic groups. To alleviate the paucity of East Asian population genome resource, we established Korean Variant Archive 2 (KOVA 2), composed of 1,896 whole genome sequences and 3,409 whole exome sequences from healthy individuals of Korean ethnicity. This is the largest genome database from the ethnic Korean population to date, surpassing the 1,909 Korean individuals deposited in gnomAD. The variants in KOVA 2 displayed all known genetic features of those from previous genome databases, and we compiled data from Korean-specific runs of homozygosity, positively selected intervals, and structural variants. In doing so, we found loci that are strongly selected in the Koreans relative to other East Asians, such as ADH1A/1B and UHRF1BP1. Our analysis of allele ages revealed a correlation of variant functionality and evolutionary age. The data can be browsed and downloaded from a public website (https://www.kobic.re.kr/kova/). We anticipate KOVA 2 will serve as a valuable resource for genetic studies on East Asian populations.