SpeedSeq: Ultra-fast personal genome analysis and interpretation

Colby Chiang; Ryan M. Layer; Gregory G. Faust; Michael R. Lindberg; David B. Rose; Erik P. Garrison; Gabor T. Marth; Aaron R. Quinlan; Ira M. Hall

doi:10.1038/nmeth.3505

SpeedSeq: Ultra-fast personal genome analysis and interpretation

Colby Chiang, Ryan M. Layer, Gregory G. Faust, Michael R. Lindberg, David B. Rose, Erik P. Garrison, Gabor T. Marth, Aaron R. Quinlan, Ira M. Hall

Section of Medical Oncology

Research output: Contribution to journal › Article › peer-review

386 Scopus citations

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.

Original language	English
Pages (from-to)	966-968
Number of pages	3
Journal	Nature Methods
Volume	12
Issue number	10
DOIs	https://doi.org/10.1038/nmeth.3505
State	Published - Sep 29 2015

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10.1038/nmeth.3505

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AU - Quinlan, Aaron R.

AU - Hall, Ira M.

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SpeedSeq: Ultra-fast personal genome analysis and interpretation

Abstract

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