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SVA: software for annotating and visualizing sequenced human genomes.

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.

SUBMITTER: Ge D

PROVIDER: S-EPMC3129530 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature

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SVA: software for annotating and visualizing sequenced human genomes.

Ge Dongliang D Ruzzo Elizabeth K EK Shianna Kevin V KV He Min M Pelak Kimberly K Heinzen Erin L EL Need Anna C AC Cirulli Elizabeth T ET Maia Jessica M JM Dickson Samuel P SP Zhu Mingfu M Singh Abanish A Allen Andrew S AS Goldstein David B DB

Bioinformatics (Oxford, England) 20110529 14

<h4>Summary</h4>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 trait ...[more]

PMID: 21624899

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