RegulationSpotter is a web-based tool for the interpretation of extragenic DNA variants.
It does not require any bioinformatics skills and is directly aimed at clinicians and researchers. It facilitates translational research projects
without advanced bioinformatics knowledge but with valuable expertise about phenotypes and genes,
a key point in exploiting Whole Genome Sequencing (WGS) data to identify disease mutations.
The tool integrates data from various sources to show whether a variant lies within a regulatory region and has the potential to impair gene expression. RegulationSpotter allows the user to learn about their variants of interest in a convenient fashion. It visualizes the regulatory importance of a variant and hence enables researchers to make educated choices about the alterations encountered in WGS data.
To allow comprehensive analyses, RegulationSpotter accepts both intragenic and extragenic alterations: Intragenic variants, coding or non-coding, are handled by our popular program MutationTaster, while extragenic variants get assessed by RegulationSpotter directly. There are two ways to get started with RegulationSpotter: It reads variants from standard VCF files and maps them to genes and / or regulatory elements associated with genes. Moreover users can also simply query single variants. Have a look at RegulationSpotter's workflow below. (Fig. 1)