Despite efforts to interrogate human genome variation through large-scale databases, systematic preference toward populations of Caucasian descendants has resulted in unintended reduced power in studying non-Caucasians. Here we report a compilation of coding variants from 1,055 healthy Korean individuals (KOVA; Korean Variant Archive). The samples were sequenced to a mean depth of 75x, yielding 101 private variants that are specific to the Korean individuals.
  Population genetics analysis demonstrates that Korean population is a distinct ethnic group comparable to other discrete ethnic groups in Africa and Europe, providing a demand for such independent genomic datasets. Functional assessment of nonsynonymous variant supported the presence of purifying selection in Koreans. Analysis of copy number variants detected 5.2 deletions and 10.3 amplifications per individual, with an increased fraction of novel variants among smaller and rarer copy number variable segments. We also report a list of germline variants that are associated with increased tumor susceptibility. This catalog can function as a critical addition to the pre-existing variant databases in pursuing genetic studies of Korean individuals.


Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean populationlink
Sangmoon Lee, Jihae Seo, Jinman Park, Jae-Yong Nam, Ahyoung Choi, Jason S. Ignatius, Robert D. Bjornson, Jong-Hee Chae, In-Jin Jang, Sanghyuk Lee, Woong-Yang Park, Daehyun Baek & Murim Choi
Scientific Reports 7, Article number: 4287 (2017)

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