한빛사논문
- 조회358
Jeongeun Lee1,17, Jean Lee2,17, Sungwon Jeon3, Jeongha Lee2, Insu Jang4, Jin Ok Yang4,5, Soojin Park6, Byungwook Lee4, Jinwook Choi1,7, Byung-Ok Choi8, Heon Yung Gee9, Jaeseong Oh10, In-Jin Jang10, Sanghyuk Lee11, Daehyun Baek12, Youngil Koh13, Sung-Soo Yoon13, Young-Joon Kim14, Jong-Hee Chae6,15, Woong-Yang Park16, Jong Hwa Bhak3 and Murim Choi 2
1Interdisciplinary Program in Bioengineering, Graduate School, Seoul National University, Seoul 03080, Republic of Korea.
2Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
3Department of Biomedical Engineering, College of Information and Biotechnology, Ulsan National Institute of Science and Technology (UNIST), Ulsan 44919, Republic of Korea.
4Korea BioInformation Center (KOBIC), Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon 34141, Republic of Korea.
5Department of Bio and Brain Engineering, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Republic of Korea.
6Department of Pediatrics, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
7Department of Biomedical Engineering, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
8Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul 06351, Republic of Korea.
9Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul 03722, Republic of Korea.
10Department of Clinical Pharmacology and Therapeutics, Seoul National University College of Medicine and Hospital, Seoul 03080, Republic of Korea.
11Department of Bio-Information Science, Ewha Womans University, Seoul 03760, Republic of Korea.
12School of Biological Sciences, Seoul National University, Seoul 08826, Republic of Korea.
13Department of Internal Medicine, Seoul National University Hospital, Seoul 03080, Republic of Korea.
14Department of Biochemistry, College of Life Science and Biotechnology, Yonsei University, Seoul 03722, Republic of Korea.
15Department of Genomic Medicine, Seoul National University Hospital, Seoul 03080, Republic of Korea.
16Samsung Genome Institute, Samsung Medical Center, Seoul 06351, Republic of Korea.
17These authors contributed equally: Jeongeun Lee, Jean Lee
Corresponding authors: Correspondence to Jong Hwa Bhak or Murim Choi.
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.
논문정보
- Research article
- 2022년 11월 (BRIC 등록일 2023-01-18)
- 국내 연구진
- 의약학 > 유전 및 유전체의학
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