SpeedSeq: ultra-fast personal genome analysis and interpretation

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

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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Genetic Variation
  • Genome, Human*
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Molecular Sequence Annotation / methods*
  • Neoplasms / genetics
  • Polymorphism, Single Nucleotide
  • Precision Medicine / methods
  • Software*
  • Workflow