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.
Tool: Sva - Sequence Variant Analyzer
7.6 years ago by
Malachi Griffith ♦ 18k
Washington University School of Medicine, St. Louis, USA
Malachi Griffith ♦ 18k wrote:
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