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SVA: software for annotating and visualizing sequenced human genomes.
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.
Afiliação
  • Ge D; Center for Human Genome Variation, Duke University School of Medicine, Durham, North Carolina 27708, USA. d.ge@duke.edu
Bioinformatics ; 27(14): 1998-2000, 2011 Jul 15.
Article em En | MEDLINE | ID: mdl-21624899
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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Genoma Humano Limite: Humans Idioma: En Ano de publicação: 2011 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Software / Genoma Humano Limite: Humans Idioma: En Ano de publicação: 2011 Tipo de documento: Article