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

Scientific reports - 27 Jun 2017

Lee Sangmoon, Seo Jihae, Park Jinman, Nam Jae-Yong, Choi Ahyoung, Ignatius Jason S, Bjornson Robert D, Chae Jong-Hee, Jang In-Jin, Lee Sanghyuk, Park Woong-Yang, Baek Daehyun, Choi Murim

Abstract excerpt

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...

Topics

Asian People
DNA Copy Number Variations
Databases, Genetic
Exome
Genetic Predisposition to Disease
Genetic Variation
Genetics, Population
Germ-Line Mutation
Humans
Neoplasms

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Republic of Korea

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Open in PubMed Open full text

Identifiers

PMID: 28655895
DOI: 10.1038/s41598-017-04642-4
PMCID: PMC5487339

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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