Dataset Information

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

ABSTRACT: RegulationSpotter is a web-based tool for the user-friendly annotation and interpretation of DNA variants located outside of protein-coding transcripts (extratranscriptic variants). It is designed for clinicians and researchers who wish to assess the potential impact of the considerable number of non-coding variants found in Whole Genome Sequencing runs. It annotates individual variants with underlying regulatory features in an intuitive way by assessing over 100 genome-wide annotations. Additionally, it calculates a score, which reflects the regulatory potential of the variant region. Its dichotomous classifications, 'functional' or 'non-functional', and a human-readable presentation of the underlying evidence allow a biologically meaningful interpretation of the score. The output shows key aspects of every variant and allows rapid access to more detailed information about its possible role in gene regulation. RegulationSpotter can either analyse single variants or complete VCF files. Variants located within protein-coding transcripts are automatically assessed by MutationTaster as well as by RegulationSpotter to account for possible intragenic regulatory effects. RegulationSpotter offers the possibility of using phenotypic data to focus on known disease genes or genomic elements interacting with them. RegulationSpotter is freely available at https://www.regulationspotter.org.

SUBMITTER: Schwarz JM

PROVIDER: S-EPMC6602480 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature

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RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Schwarz Jana Marie JM Hombach Daniela D Köhler Sebastian S Cooper David N DN Schuelke Markus M Seelow Dominik D

Nucleic acids research 20190701 W1

RegulationSpotter is a web-based tool for the user-friendly annotation and interpretation of DNA variants located outside of protein-coding transcripts (extratranscriptic variants). It is designed for clinicians and researchers who wish to assess the potential impact of the considerable number of non-coding variants found in Whole Genome Sequencing runs. It annotates individual variants with underlying regulatory features in an intuitive way by assessing over 100 genome-wide annotations. Additio ...[more]

PMID: 31106382

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Dataset Information

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Publications

RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants.

Similar Datasets

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