Division of Bio-Medical Informatics, Center for Genome Science, National Institute of Health, Cheongwon 363-951, Korea.
BMB Rep. 2013 Aug;46(8):416-21. doi: 10.5483/bmbrep.2013.46.8.191.
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/].
全基因组关联研究 (GWAS) 已成为一种识别大量与表型相关变体的流行方法。然而,遗传结构和环境因素的差异意味着变体的影响在不同人群中可能有所不同。了解人口遗传多样性对于研究变体可能存在的特定于人群和独立的影响是有价值的。EvoSNP-DB 旨在提供东亚人群(包括中国人、日本人、韩国人)遗传多样性的信息。在 54 个韩国三核苷酸(162 个样本)中对非冗余 SNPs(160 万个)进行了基因分型,并与 HapMap 第二阶段人群的 400 万个 SNPs 进行了比较。EvoSNP-DB 提供了两个用于数据查询和可视化的用户界面,并整合了 SNPs、基因和染色体区域水平的遗传多样性(Fst 和 VarLD)评分。EvoSNP-DB 是一个基于网络的应用程序,允许用户以交互方式导航和可视化人口遗传差异的测量值,并可在线访问[http://biomi.cdc.go.kr/EvoSNP/]。