title: SVA: software for annotating and visualizing sequenced human genomes.
abstract: CONCLUSIONS
  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.
  
  
  METHODS
  Freely available on the web at http://www.svaproject.org.
authors.affiliation: Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina 27708, USA. d.ge@duke.edu
authors.forename: Dongliang
authors.initials: D
authors.lastname: Ge
authors.forename: Elizabeth K
authors.initials: EK
authors.lastname: Ruzzo
authors.forename: Kevin V
authors.initials: KV
authors.lastname: Shianna
authors.forename: Min
authors.initials: M
authors.lastname: He
authors.forename: Kimberly
authors.initials: K
authors.lastname: Pelak
authors.forename: Erin L
authors.initials: EL
authors.lastname: Heinzen
authors.forename: Anna C
authors.initials: AC
authors.lastname: Need
authors.forename: Elizabeth T
authors.initials: ET
authors.lastname: Cirulli
authors.forename: Jessica M
authors.initials: JM
authors.lastname: Maia
authors.forename: Samuel P
authors.initials: SP
authors.lastname: Dickson
authors.forename: Mingfu
authors.initials: M
authors.lastname: Zhu
authors.forename: Abanish
authors.initials: A
authors.lastname: Singh
authors.forename: Andrew S
authors.initials: AS
authors.lastname: Allen
authors.forename: David B
authors.initials: DB
authors.lastname: Goldstein
mesh_terms: D001296:Audiovisual Aids; D001483:Base Sequence; D015894:Genome, Human; D056914:Genomic Structural Variation; D006801:Humans; D020407:Internet; D017422:Sequence Analysis, DNA / Q000379:methods; D012984:Software