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SpeedSeq: ultra-fast personal genome analysis and interpretation.
Chiang, Colby; Layer, Ryan M; Faust, Gregory G; Lindberg, Michael R; Rose, David B; Garrison, Erik P; Marth, Gabor T; Quinlan, Aaron R; Hall, Ira M.
Afiliación
  • Chiang C; McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.
  • Layer RM; Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
  • Faust GG; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
  • Lindberg MR; Utah Science Technology and Research (USTAR) Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, Utah, USA.
  • Rose DB; Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
  • Garrison EP; Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
  • Marth GT; Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
  • Quinlan AR; Wellcome Trust Sanger Institute, Hinxton, UK.
  • Hall IM; Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
Nat Methods ; 12(10): 966-8, 2015 Oct.
Article en En | MEDLINE | ID: mdl-26258291
ABSTRACT
SpeedSeq is an open-source genome analysis platform that accomplishes alignment, variant detection and functional annotation of a 50× human genome in 13 h on a low-cost server and alleviates a bioinformatics bottleneck that typically demands weeks of computation with extensive hands-on expert involvement. SpeedSeq offers performance competitive with or superior to current methods for detecting germline and somatic single-nucleotide variants, structural variants, insertions and deletions, and it includes novel functionality for streamlined interpretation.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Programas Informáticos / Genoma Humano / Secuenciación de Nucleótidos de Alto Rendimiento / Anotación de Secuencia Molecular Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Nat Methods Asunto de la revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Programas Informáticos / Genoma Humano / Secuenciación de Nucleótidos de Alto Rendimiento / Anotación de Secuencia Molecular Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Nat Methods Asunto de la revista: TECNICAS E PROCEDIMENTOS DE LABORATORIO Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos