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. 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

Dongliang Ge  1 , Elizabeth K Ruzzo, Kevin V Shianna, Min He, Kimberly Pelak, Erin L Heinzen, Anna C Need, Elizabeth T Cirulli, Jessica M Maia, Samuel P Dickson, Mingfu Zhu, Abanish Singh, Andrew S Allen, David B Goldstein
Affiliations

SVA: software for annotating and visualizing sequenced human genomes

Dongliang Ge et al. Bioinformatics. .

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.

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Figures

Fig. 1.
Fig. 1.
A screenshot of SVA, highlighting a frameshift indel that is located on exon 14 of the Factor VIII gene and is the cause of type A hemophilia.
See this image and copyright information in PMC

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