SVA: software for annotating and visualizing sequenced human genomes.
Publication
, Journal Article
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 in: Bioinformatics
July 15, 2011
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.
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Published In
Bioinformatics
DOI
EISSN
1367-4811
Publication Date
July 15, 2011
Volume
27
Issue
14
Start / End Page
1998 / 2000
Location
England
Related Subject Headings
- Software
- Sequence Analysis, DNA
- Internet
- Humans
- Genomic Structural Variation
- Genome, Human
- Bioinformatics
- Base Sequence
- Audiovisual Aids
- 49 Mathematical sciences
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APA
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MLA
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Ge, D., Ruzzo, E. K., Shianna, K. V., He, M., Pelak, K., Heinzen, E. L., … Goldstein, D. B. (2011). SVA: software for annotating and visualizing sequenced human genomes. Bioinformatics, 27(14), 1998–2000. https://doi.org/10.1093/bioinformatics/btr317
Ge, Dongliang, Elizabeth K. Ruzzo, Kevin V. Shianna, Min He, Kimberly Pelak, Erin L. Heinzen, Anna C. Need, et al. “SVA: software for annotating and visualizing sequenced human genomes.” Bioinformatics 27, no. 14 (July 15, 2011): 1998–2000. https://doi.org/10.1093/bioinformatics/btr317.
Ge D, Ruzzo EK, Shianna KV, He M, Pelak K, Heinzen EL, et al. SVA: software for annotating and visualizing sequenced human genomes. Bioinformatics. 2011 Jul 15;27(14):1998–2000.
Ge, Dongliang, et al. “SVA: software for annotating and visualizing sequenced human genomes.” Bioinformatics, vol. 27, no. 14, July 2011, pp. 1998–2000. Pubmed, doi:10.1093/bioinformatics/btr317.
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. SVA: software for annotating and visualizing sequenced human genomes. Bioinformatics. 2011 Jul 15;27(14):1998–2000.
Published In
Bioinformatics
DOI
EISSN
1367-4811
Publication Date
July 15, 2011
Volume
27
Issue
14
Start / End Page
1998 / 2000
Location
England
Related Subject Headings
- Software
- Sequence Analysis, DNA
- Internet
- Humans
- Genomic Structural Variation
- Genome, Human
- Bioinformatics
- Base Sequence
- Audiovisual Aids
- 49 Mathematical sciences