dc.contributor.author
Schwarz, Jana Marie
dc.contributor.author
Hombach, Daniela
dc.contributor.author
Köhler, Sebastian
dc.contributor.author
Cooper, David N.
dc.contributor.author
Schuelke, Markus
dc.contributor.author
Seelow, Dominik
dc.date.accessioned
2019-07-29T14:07:38Z
dc.date.available
2019-07-29T14:07:38Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/25167
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-2922
dc.description.abstract
RegulationSpotter is a web-based tool for the userfriendly 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 noncoding 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.
en
dc.rights.uri
https://creativecommons.org/licenses/by/4.0/
dc.subject
DNA variants
en
dc.subject
Whole Genome Sequencing (WGS)
en
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit
dc.title
RegulationSpotter: annotation and interpretation of extratranscriptic DNA variants
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation.doi
10.1093/nar/gkz327
dcterms.bibliographicCitation.journaltitle
Nucleic Acids Research
dcterms.bibliographicCitation.originalpublishername
Oxford University Press
dcterms.bibliographicCitation.pagestart
W106
dcterms.bibliographicCitation.pageend
W113
dcterms.bibliographicCitation.volume
47
refubium.affiliation
Charité - Universitätsmedizin Berlin
refubium.resourceType.isindependentpub
no
dcterms.accessRights.openaire
open access
dcterms.bibliographicCitation.pmid
31106382
dcterms.isPartOf.eissn
1362-4962