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Related Experiment Video

Updated: Jan 24, 2026

Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans

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RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Jana Marie Schwarz^1,2,3, Daniela Hombach^2,3, Sebastian Köhler^2,4,5

¹Department of Neuropediatrics, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health (BIH), Berlin, Germany.

Nucleic Acids Research

|May 21, 2019

Summary

RegulationSpotter is a new tool that helps interpret non-coding DNA variants. It annotates variants with regulatory features and provides a functional or non-functional classification for better biological insights.

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

Area of Science:

Genomics
Bioinformatics
Molecular Biology

Background:

Whole Genome Sequencing (WGS) generates numerous extratranscriptic variants.
Interpreting the functional impact of non-coding variants is challenging for researchers and clinicians.
Existing tools may not comprehensively address the regulatory potential of extratranscriptic DNA variations.

Purpose of the Study:

To introduce RegulationSpotter, a web-based tool for annotating and interpreting extratranscriptic DNA variants.
To provide a user-friendly platform for assessing the regulatory potential of non-coding variants.
To facilitate the biological interpretation of variants identified in WGS data.

Main Methods:

RegulationSpotter assesses variants using over 100 genome-wide annotations.
It calculates a regulatory potential score with dichotomous classifications ('functional' or 'non-functional').
The tool integrates MutationTaster for intragenic variant assessment and allows phenotypic data integration.

Main Results:

RegulationSpotter provides intuitive annotation and interpretation of extratranscriptic variants.
It generates a biologically meaningful score based on regulatory features and evidence.
The tool supports analysis of single variants or entire VCF files.

Conclusions:

RegulationSpotter offers a user-friendly solution for interpreting the impact of non-coding DNA variants.
It enhances the assessment of WGS data by focusing on regulatory elements.
The tool is freely available and aids in understanding gene regulation.