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 k

SUBMITTER: Schwarz JM 

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

REPOSITORIES: biostudies-literature