Thursday, June 2, 2011

SVA: Software for Annotating and Visualizing Sequenced Human Genomes

SVA: Software for Annotating and Visualizing Sequenced Human Genomes:

Summary: Here we present 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 illustration 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. (For direct reviewer access, please visit: http://www.svaproject.org/directaccess.php)

Contact:d.ge@duke.edu

Supplementary Information: Available at the journal’s website.


(Via Bioinformatics - Advance Access.)