SpeedSeq: ultra-fast personal genome analysis and interpretation

C Chiang, RM Layer, GG Faust, MR Lindberg… - Nature …, 2015 - nature.com
Nature methods, 2015nature.com
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 …
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.
nature.com