Lemaçon Audrey, Joly Beauparlant Charles, Soucy Penny, Allen Jamie, Easton Douglas, Kraft Peter, Simard Jacques, Droit Arnaud
Genomics Center, Centre Hospitalier Universitaire de Québec - Université Laval Research Center, Quebec, Canada.
Department of Public Health and Primary Care, Centre for Cancer Genetic Epidemiology, University of Cambridge, Cambridge, UK.
Bioinformatics. 2017 May 1;33(9):1389-1391. doi: 10.1093/bioinformatics/btw826.
The identification of the functional variants responsible for observed genome-wide association studies (GWAS) signals is one of the most challenging tasks of the post-GWAS research era. Several tools have been developed to annotate genetic variants by their genomic location and potential functional implications. Each of these tools has its own requirements and internal logic, which forces the user to become acquainted with each interface.
From an awareness of the amount of work needed to analyze a single locus, we have built a flexible, versatile and easy-to-use web interface designed to help in prioritizing variants and predicting their potential functional implications. This interface acts as a single-point of entry linking association results with reference tools and relevant experiments.
VEXOR is an integrative web application implemented through the Shiny framework and available at: http://romix.genome.ulaval.ca/vexor.
arnaud.droit@crchuq.ulaval.ca.
Supplementary data are available at Bioinformatics online.
识别导致全基因组关联研究（GWAS）信号的功能变异是GWAS后研究时代最具挑战性的任务之一。已经开发了几种工具，通过基因变异的基因组位置及其潜在的功能影响对其进行注释。这些工具中的每一个都有自己的要求和内部逻辑，这迫使用户熟悉每个界面。
鉴于分析单个基因座所需的工作量，我们构建了一个灵活、通用且易于使用的网络界面，旨在帮助对变异进行优先级排序并预测其潜在的功能影响。该界面作为一个单点入口，将关联结果与参考工具和相关实验联系起来。
VEXOR是一个通过Shiny框架实现的综合网络应用程序，可在以下网址获取：http://romix.genome.ulaval.ca/vexor。
arnaud.droit@crchuq.ulaval.ca。
补充数据可在《生物信息学》在线获取。
