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

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Title
Korean Variant Archive (KOVA): A reference database of genetic variations in the Korean population
Author(s)
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
Publication Date
2017-06
Journal
SCIENTIFIC REPORTS, v.7, no.1, pp.4287 -
Publisher
NATURE PUBLISHING GROUP
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)
URI
http://pr.ibs.re.kr/handle/8788114/3670
DOI
10.1038/s41598-017-04642-4
ISSN
2045-2322
Appears in Collections:
Center for RNA Research(RNA 연구단) > Journal Papers (저널논문)
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