RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants

Schwarz, Jana Marie, Hombach, Daniela, Köhler, Sebastian, Cooper, David N ORCID: https://orcid.org/0000-0002-8943-8484, Schuelke, Markus and Seelow, Dominik 2019. RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants. Nucleic Acids Research 47 (W1) , W106-W113. 10.1093/nar/gkz327

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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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Publisher:	Oxford University Press (OUP)
ISSN:	0305-1048
Date of First Compliant Deposit:	10 July 2019
Date of Acceptance:	9 May 2019
Last Modified:	05 May 2023 01:17
URI:	https://orca.cardiff.ac.uk/id/eprint/124117

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