Literature DB >> 26678383

VAGrENT: Variation Annotation Generator.

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.
Copyright © 2015 John Wiley & Sons, Inc.

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


  3 in total

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  3 in total
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Authors:  David Jones; Keiran M Raine; Helen Davies; Patrick S Tarpey; Adam P Butler; Jon W Teague; Serena Nik-Zainal; Peter J Campbell
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Journal:  Nature       Date:  2018-07-09       Impact factor: 49.962

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  8 in total

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