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Bioinformatics. 2011 Jul 15;27(14):1998-2000. doi: 10.1093/bioinformatics/btr317. Epub 2011 May 29.

SVA: software for annotating and visualizing sequenced human genomes.

Author information

1
Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina 27708, USA. d.ge@duke.edu

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.

PMID:
21624899
PMCID:
PMC3129530
DOI:
10.1093/bioinformatics/btr317
[Indexed for MEDLINE]
Free PMC Article
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