SVA: software for annotating and visualizing sequenced human genomes
File(s)
Author(s)
Type
Journal Article
Abstract
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 http://www.svaproject.org.
Date Issued
2011-05-29
Date Acceptance
2011-05-22
Citation
Bioinformatics, 2011, 27 (14), pp.1998-2000
ISSN
1367-4803
Publisher
Oxford University Press
Start Page
1998
End Page
2000
Journal / Book Title
Bioinformatics
Volume
27
Issue
14
Copyright Statement
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.5), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
License URL
Subjects
Audiovisual Aids
Base Sequence
Genome, Human
Genomic Structural Variation
Humans
Internet
Sequence Analysis, DNA
Software
Bioinformatics
01 Mathematical Sciences
06 Biological Sciences
08 Information And Computing Sciences
Publication Status
Published