4.7 Article

A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian population

期刊

EXPERIMENTAL AND MOLECULAR MEDICINE
卷 54, 期 11, 页码 1862-1871

出版社

SPRINGERNATURE
DOI: 10.1038/s12276-022-00871-4

关键词

-

资金

  1. National Research Foundation - Ministry of Science and Technology [2014M3C9A2064686, 2018M3C9A5064708, 2020M3E5D7086836]
  2. National Research Foundation of Korea [2014M3C9A2064686, 2018M3C9A5064708] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)

向作者/读者索取更多资源

The Korean Variant Archive 2 (KOVA 2) is the largest genome database from the ethnic Korean population to date, consisting of 1896 whole-genome sequences and 3409 whole-exome sequences. Variants in KOVA 2 display known genetic features and the database includes data on Korean-specific runs of homozygosity, positively selected intervals, and structural variants. It is expected to be a valuable resource for genetic studies involving East Asian populations.
Despite substantial advances in disease genetics, studies to date have largely focused on individuals of European descent. This limits further discoveries of novel functional genetic variants in other ethnic groups. To alleviate the paucity of East Asian population genome resources, we established the Korean Variant Archive 2 (KOVA 2), which is composed of 1896 whole-genome sequences and 3409 whole-exome sequences from healthy individuals of Korean ethnicity. This is the largest genome database from the ethnic Korean population to date, surpassing the 1909 Korean individuals deposited in gnomAD. The variants in KOVA 2 displayed all the known genetic features of those from previous genome databases, and we compiled data from Korean-specific runs of homozygosity, positively selected intervals, and structural variants. In doing so, we found loci, such as the loci of ADH1A/1B and UHRF1BP1, that are strongly selected in the Korean population relative to other East Asian populations. Our analysis of allele ages revealed a correlation between variant functionality and evolutionary age. The data can be browsed and downloaded from a public website (https://www.kobic.re.kr/kova/). We anticipate that KOVA 2 will serve as a valuable resource for genetic studies involving East Asian populations.

作者

我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。

评论

主要评分

4.7
评分不足

次要评分

新颖性
-
重要性
-
科学严谨性
-
评价这篇论文

推荐

暂无数据
暂无数据