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

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...

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Autores principales:	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
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2017
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/3560dfb2803246f2bf863c94f39798d4
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spelling	oai:doaj.org-article:3560dfb2803246f2bf863c94f39798d42021-12-02T12:30:11ZKorean Variant Archive (KOVA): a reference database of genetic variations in the Korean population10.1038/s41598-017-04642-42045-2322https://doaj.org/article/3560dfb2803246f2bf863c94f39798d42017-06-01T00:00:00Zhttps://doi.org/10.1038/s41598-017-04642-4https://doaj.org/toc/2045-2322Abstract 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.Sangmoon LeeJihae SeoJinman ParkJae-Yong NamAhyoung ChoiJason S. IgnatiusRobert D. BjornsonJong-Hee ChaeIn-Jin JangSanghyuk LeeWoong-Yang ParkDaehyun BaekMurim ChoiNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 7, Iss 1, Pp 1-9 (2017)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q 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 Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population
description	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.
format	article
author	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
author_facet	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
author_sort	Sangmoon Lee
title	Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population
title_short	Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population
title_full	Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population
title_fullStr	Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population
title_full_unstemmed	Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population
title_sort	korean variant archive (kova): a reference database of genetic variations in the korean population
publisher	Nature Portfolio
publishDate	2017
url	https://doaj.org/article/3560dfb2803246f2bf863c94f39798d4
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Korean Variant Archive (KOVA): a reference database of genetic variations in the Korean population

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