Format

Send to

Choose Destination
Nat Methods. 2015 Oct;12(10):966-8. doi: 10.1038/nmeth.3505. Epub 2015 Aug 10.

SpeedSeq: ultra-fast personal genome analysis and interpretation.

Author information

1
McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.
2
Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
3
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, Utah, USA.
4
Utah Science Technology and Research (USTAR) Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, Utah, USA.
5
Wellcome Trust Sanger Institute, Hinxton, UK.
6
Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.

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.

PMID:
26258291
PMCID:
PMC4589466
DOI:
10.1038/nmeth.3505
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center