SVA: software for annotating and visualizing sequenced human genomes

• DOI: 10.1093/bioinformatics/btr317
• Publication Date: 2011-05-31T00:25:29Z
• Authors: Dongliang Ge; 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
• Keywords: 08 Information And Computing Sciences; Internet; 0303 health sciences; Genome; Audiovisual Aids; Base Sequence; Bioinformatics; Genome, Human; DNA; Sequence Analysis, DNA; 06 Biological Sciences; 004; Applications Note; 03 medical and health sciences; Genomic Structural Variation; Humans; Sequence Analysis; 01 Mathematical Sciences; Software; Human

Abstract Summary: Here we present Sequence Variant Analyzer (SVA), a software tool that assigns predicted biological function to variants identified in next-generation sequencing studies and provides browser visualize the their genomic contexts. SVA also for flexible interaction with implementing variant association tests allowing users consider both bioinformatic annotation of strength associations studied traits. We illustrate features using two simple examples sequenced genomes harbor Mendelian mutations. Availability implementation: Freely available on web at http://www.svaproject.org. Contact: [e-mail] Supplementary information: data are Bioinformatics online.