snpXplorer: a web application to explore SNP-associations and annotate SNP-sets

Published: Nov. 12, 2020, 7:01 p.m.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.11.11.377879v1?rss=1 Authors: Tesi, N., van der Lee, S. J., Hulsman, M., Holstege, H., Reinders, M. Abstract: Genetic association studies are largely used to study the genetic basis of numerous traits. However, the interpretation of genetic associations is often complex and requires the integration of multiple sources of annotation. We developed snpXplorer, a web-server application for exploring SNP-association statistics across human traits and functionally annotate sets of SNPs. snpXplorer allows superimposition of association statistics from multiple studies, and displays regional information including SNP-associations, structural variations, recombination rates, eQTL, linkage disequilibrium patterns, genes and gene-expressions per tissue. snpXplorer can be used to compare levels of association across different phenotypes, which may help the interpretation of variant consequences. Interestingly, given a list of SNPs, snpXplorer performs variant-to-gene mapping and gene-set overlap analysis to identify molecular pathways that are enriched in the genes likely associated with the variants of interest. Availability: snpXplorer is freely available at http://snpxplorer.eu.ngrok.io. Copy rights belong to original authors. Visit the link for more info