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

Authors
 Jeongeun Lee  ;  Jean Lee  ;  Sungwon Jeon  ;  Jeongha Lee  ;  Insu Jang  ;  Jin Ok Yang  ;  Soojin Park  ;  Byungwook Lee  ;  Jinwook Choi  ;  Byung-Ok Choi  ;  Heon Yung Gee  ;  Jaeseong Oh  ;  In-Jin Jang  ;  Sanghyuk Lee  ;  Daehyun Baek  ;  Youngil Koh  ;  Sung-Soo Yoon  ;  Young-Joon Kim  ;  Jong-Hee Chae  ;  Woong-Yang Park  ;  Jong Hwa Bhak  ;  Murim Choi 
Citation
 EXPERIMENTAL AND MOLECULAR MEDICINE, Vol.54(11) : 1862-1871, 2022-11 
Journal Title
EXPERIMENTAL AND MOLECULAR MEDICINE
ISSN
 1226-3613 
Issue Date
2022-11
MeSH
Asian People* / genetics ; Exome* ; Humans ; Polymorphism, Single Nucleotide ; Republic of Korea
Abstract
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.
Files in This Item:
T9992022727.pdf Download
DOI
10.1038/s12276-022-00871-4
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pharmacology (약리학교실) > 1. Journal Papers
Yonsei Authors
Gee, Heon Yung(지헌영) ORCID logo https://orcid.org/0000-0002-8741-6177
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/193655
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