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SVA: software for annotating and visualizing sequenced human genomes

Authors
Journal
Bioinformatics
1367-4803
Publisher
Oxford University Press
Publication Date
Volume
27
Issue
14
Identifiers
DOI: 10.1093/bioinformatics/btr317
Keywords
  • Applications Note
  • Genome Analysis
Disciplines
  • Biology
  • Computer Science

Abstract

Summary: Here we present Sequence Variant Analyzer (SVA), a software tool that assigns a predicted biological function to variants identified in next-generation sequencing studies and provides a browser to visualize the variants in their genomic contexts. SVA also provides for flexible interaction with software implementing variant association tests allowing users to consider both the bioinformatic annotation of identified variants and the strength of their associations with studied traits. We illustrate the annotation features of SVA using two simple examples of sequenced genomes that harbor Mendelian mutations. Availability and implementation: Freely available on the web at http://www.svaproject.org. Contact: [email protected] Supplementary information: Supplementary data are available at Bioinformatics online.

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