VarCon: An R Package for Retrieving Neighboring Nucleotides of an SNV.
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ABSTRACT:
SUBMITTER: Ptok J
PROVIDER: S-EPMC7691889 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Publications
VarCon: An R Package for Retrieving Neighboring Nucleotides of an SNV.
Ptok Johannes J Theiss Stephan S Schaal Heiner H
Cancer informatics 20201124
Reporting of a single nucleotide variant (SNV) follows the Sequence Variant Nomenclature (http://varnomen.hgvs.org/), using an unambiguous numbering scheme specific for coding and noncoding DNA. However, the corresponding sequence neighborhood of a given SNV, which is required to assess its impact on splicing regulation, is not easily accessible from this nomenclature. Providing fast and easy access to this neighborhood just from a given SNV reference, the novel tool VarCon combines information ...[more]
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