SVA: software for annotating and visualizing sequenced human genomes.

Journal Article (Journal Article)

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

Full Text

Duke Authors

Cited Authors

  • Ge, D; Ruzzo, EK; Shianna, KV; He, M; Pelak, K; Heinzen, EL; Need, AC; Cirulli, ET; Maia, JM; Dickson, SP; Zhu, M; Singh, A; Allen, AS; Goldstein, DB

Published Date

  • July 15, 2011

Published In

Volume / Issue

  • 27 / 14

Start / End Page

  • 1998 - 2000

PubMed ID

  • 21624899

Pubmed Central ID

  • PMC3129530

Electronic International Standard Serial Number (EISSN)

  • 1367-4811

Digital Object Identifier (DOI)

  • 10.1093/bioinformatics/btr317


  • eng

Conference Location

  • England