Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
Institute of Biomedicine, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland.
Bioinformatics. 2019 Sep 1;35(17):3154-3156. doi: 10.1093/bioinformatics/btz046.
Genome-wide association studies (GWAS) aim to identify associations of genetic variations such as single-nucleotide polymorphisms (SNPs) to a specific trait or a disease. Identifying common themes such as pathways, biological processes and diseases associations is needed to further explore and interpret these results. Varanto is a novel web tool for annotating, visualizing and analyzing human genetic variations using diverse data sources. Varanto can be used to query a set of input variations, retrieve their associated variation and gene level annotations, perform annotation enrichment analysis and visualize the results.
Varanto web app is developed with R and implemented as Shiny app with PostgreSQL database and is freely available at http://bioinformatics.uef.fi/varanto. Source code for the tool is available at https://github.com/oqe/varanto.
Supplementary data are available at Bioinformatics online.
全基因组关联研究（GWAS）旨在识别遗传变异（如单核苷酸多态性 [SNP]）与特定特征或疾病之间的关联。需要确定途径、生物过程和疾病关联等常见主题，以进一步探索和解释这些结果。Varanto 是一种新颖的网络工具，用于使用各种数据源注释、可视化和分析人类遗传变异。Varanto 可用于查询一组输入变异，检索它们相关的变异和基因水平注释，执行注释富集分析并可视化结果。
Varanto 网络应用程序是使用 R 开发的，并作为 Shiny 应用程序实现，使用 PostgreSQL 数据库，可在 http://bioinformatics.uef.fi/varanto 上免费获得。该工具的源代码可在 https://github.com/oqe/varanto 上获得。
补充数据可在 Bioinformatics 在线获得。
