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Using VAAST to Identify Disease-Associated Variants in Next-Generation Sequencing Data.
Kennedy, Brett; Kronenberg, Zev; Hu, Hao; Moore, Barry; Flygare, Steven; Reese, Martin G; Jorde, Lynn B; Yandell, Mark; Huff, Chad.
Afiliación
  • Kennedy B; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
  • Kronenberg Z; These authors collectively are the first authors of the unit.
  • Hu H; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
  • Moore B; These authors collectively are the first authors of the unit.
  • Flygare S; Department of Epidemiology, The University of Texas M.D. Anderson Cancer Center, Houston, Texas.
  • Reese MG; These authors collectively are the first authors of the unit.
  • Jorde LB; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
  • Yandell M; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah.
  • Huff C; Omicia, Inc, Emeryville, California.
Curr Protoc Hum Genet ; 81: 6.14.1-6.14.25, 2014 Apr 24.
Article en En | MEDLINE | ID: mdl-24763993
The VAAST pipeline is specifically designed to identify disease-associated alleles in next-generation sequencing data. In the protocols presented in this paper, we outline the best practices for variant prioritization using VAAST. Examples and test data are provided for case-control, small pedigree, and large pedigree analyses. These protocols will teach users the fundamentals of VAAST, VAAST 2.0, and pVAAST analyses.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Guideline / Observational_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Curr Protoc Hum Genet Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Variación Genética / Secuenciación de Nucleótidos de Alto Rendimiento Tipo de estudio: Guideline / Observational_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Curr Protoc Hum Genet Año: 2014 Tipo del documento: Article