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 | |
State | Published - Sep 29 2015 |