| Title: |
SVA: software for annotating and visualizing sequenced human genomes |
| Authors: |
Ge, Dongliang; Ruzzo, Elizabeth K.; Shianna, Kevin V.; He, Min; Pelak, Kimberly; Heinzen, Erin L.; Need, Anna C.; Cirulli, Elizabeth T.; Maia, Jessica M.; Dickson, Samuel P.; Zhu, Mingfu; Singh, Abanish; Allen, Andrew S.; Goldstein, David B. |
| Publisher Information: |
Oxford University Press |
| Publication Year: |
2011 |
| Collection: |
HighWire Press (Stanford University) |
| Subject Terms: |
GENOME ANALYSIS |
| Description: |
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 . Contact: d.ge@duke.edu Supplementary information: Supplementary data are available at Bioinformatics online. |
| Document Type: |
text |
| File Description: |
text/html |
| Language: |
English |
| Relation: |
http://bioinformatics.oxfordjournals.org/cgi/content/short/27/14/1998; http://dx.doi.org/10.1093/bioinformatics/btr317 |
| DOI: |
10.1093/bioinformatics/btr317 |
| Availability: |
http://bioinformatics.oxfordjournals.org/cgi/content/short/27/14/1998; https://doi.org/10.1093/bioinformatics/btr317 |
| Rights: |
Copyright (C) 2011, Oxford University Press |
| Accession Number: |
edsbas.1AD7E60D |
| Database: |
BASE |