| Literature DB >> 26678383 |
Andy Menzies1, Jon W Teague1, Adam P Butler1, Helen Davies1, Patrick Tarpey1, Serena Nik-Zainal1, Peter J Campbell1.
Abstract
VAGrENT is a tool that provides biological context and effect prediction for genomic sequence variants. It annotates single base substitutions and small insertions and deletions by comparing them to reference information within or close to genes or other transcribed elements. This information provides the critical insight required to inform the biological or clinical significance of variant data generated from sequencing studies. The software has been optimized to run efficiently against the large numbers and diverse classes of variants that are typically generated from next generation sequencing technologies. This unit describes how to configure and use VAGrENT and also contains support protocols for extending and adapting its default behavior.Entities:
Keywords: deletion; insertion; substitution; variant annotation
Mesh:
Year: 2015 PMID: 26678383 PMCID: PMC6101192 DOI: 10.1002/0471250953.bi1508s52
Source DB: PubMed Journal: Curr Protoc Bioinformatics ISSN: 1934-3396