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VarCon: An R Package for Retrieving Neighboring Nucleotides of an SNV

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 o...

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Detalles Bibliográficos
Autores principales: Ptok, Johannes, Theiss, Stephan, Schaal, Heiner
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7691889/
https://www.ncbi.nlm.nih.gov/pubmed/33281441
http://dx.doi.org/10.1177/1176935120976399