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Korean Variant Archive (KOVA): A reference database of genetic variations in the Korean population

Title
Korean Variant Archive (KOVA): A reference database of genetic variations in the Korean population
Authors
Lee S.Seo J.Park J.Nam J.-Y.Choi A.Ignatius J.S.Bjornson R.D.Chae J.-H.Jang I.-J.Park W.-Y.Baek D.Choi M.
Ewha Authors
이상혁
SCOPUS Author ID
이상혁scopus
Issue Date
2017
Journal Title
Scientific Reports
ISSN
2045-2322JCR Link
Citation
vol. 7, no. 1
Publisher
Nature Publishing Group
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Despite efforts to interrogate human genome variation through large-scale databases, systematic preference toward populations of Caucasian descendants has resulted in unintended reduction of 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 singleton variants per individual. Population genetics analysis demonstrates that the Korean population is a distinct ethnic group comparable to other discrete ethnic groups in Africa and Europe, providing a rationale for such independent genomic datasets. Indeed, KOVA conferred 22.8% increased variant filtering power in addition to Exome Aggregation Consortium (ExAC) when used on Korean exomes. 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. © 2017 The Author(s).
DOI
10.1038/s41598-017-04642-4
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자연과학대학 > 생명과학전공 > Journal papers
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