title: SpeedSeq: ultra-fast personal genome analysis and interpretation.
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.
authors.affiliation: McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.|Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
authors.forename: Colby
authors.initials: C
authors.lastname: Chiang
authors.affiliation: Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.|Utah Science Technology and Research (USTAR) Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, Utah, USA.
authors.forename: Ryan M
authors.initials: RM
authors.lastname: Layer
authors.affiliation: Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
authors.forename: Gregory G
authors.identifier: http://orcid.org/0000-0002-8233-9408
authors.initials: GG
authors.lastname: Faust
authors.affiliation: Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
authors.forename: Michael R
authors.initials: MR
authors.lastname: Lindberg
authors.affiliation: Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
authors.forename: David B
authors.initials: DB
authors.lastname: Rose
authors.affiliation: Wellcome Trust Sanger Institute, Hinxton, UK.
authors.forename: Erik P
authors.initials: EP
authors.lastname: Garrison
authors.affiliation: Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.|Utah Science Technology and Research (USTAR) Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, Utah, USA.
authors.forename: Gabor T
authors.initials: GT
authors.lastname: Marth
authors.affiliation: Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.|Utah Science Technology and Research (USTAR) Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, Utah, USA.
authors.forename: Aaron R
authors.initials: AR
authors.lastname: Quinlan
authors.affiliation: McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.|Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.
authors.forename: Ira M
authors.initials: IM
authors.lastname: Hall
mesh_terms: D014644:Genetic Variation; D015894:Genome, Human; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D058977:Molecular Sequence Annotation / Q000379:methods*; D009369:Neoplasms / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D057285:Precision Medicine / Q000379:methods; D012984:Software; D057188:Workflow