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.

SUBMITTER: Chiang C 

PROVIDER: S-EPMC4589466 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature