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SpeedSeq: ultra-fast personal genome analysis and interpretation

2015; Nature Portfolio; Volume: 12; Issue: 10 Linguagem: Inglês

10.1038/nmeth.3505

1548-7105

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

Gene expression and cancer classification

SpeedSeq is an open-source software suite offering very fast, accurate and comprehensive analysis of single-nucleotide and structural variants from whole genome sequencing data. 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.