BMB Reports, 2013, 01, 416─421

EvoSNP-DB: A database of genetic diversity in East Asian populations

Kim YU, Kim YJ, Lee JY, Park K

Abstract

Genome-wide association studies (GWAS) have become popular as an approach for the identification of large numbers of phenotype-associated variants. However, differences in genetic architecture and environmental factors mean that the effect of variants can vary across populations. Understanding population genetic diversity is valuable for the investigation of possible population specific and independent effects of variants. EvoSNP-DB aims to provide information regarding genetic diversity among East Asian populations, including Chinese, Japanese, and Korean. Non-redundant SNPs (1.6 million) were genotyped in 54 Korean trios (162 samples) and were compared with 4 million SNPs from HapMap phase II populations. EvoSNP-DB provides two user interfaces for data query and visualization, and integrates scores of genetic diversity (Fst and VarLD) at the level of SNPs, genes, and chromosome regions. EvoSNP-DB is a web-based application that allows users to navigate and visualize measurements of population genetic differences in an interactive manner, and is available online at [http://biomi.cdc.go.kr/EvoSNP/].

• ISBN or ISSN: 1976-6696

• 본 연구는 질병관리본부 연구개발과제(과제번호 2012-NG72001-00) 연구비를 지원받아 수행되었습니다.
• This research was supported by a fund(code 2012-NG72001-00) by Research of Korea Centers for Disease Control and Prevention.