Aug 11, 2015

SpeedSeq: ultra-fast personal genome analysis and interpretation

Nature Methods
Colby ChiangIra M Hall

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.

  • References22
  • Citations61

References

Mentioned in this Paper

Genome
Gene Deletion
Bio-Informatics
Comparative Genomic Analysis
Nucleotides
Structure
Genome, Human
Germline DNA
Computed (Procedure)
Gene Insertion

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