SpeedSeq: ultra-fast personal genome analysis and interpretation.
other · Level V
Where this comes from
- Record sourced from PubMed, PMID 26258291.
- Also identified by DOI 10.1038/nmeth.3505 and PMC identifier 4589466.
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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.
Medical subject headings
- Genome, Human
- High-Throughput Nucleotide Sequencing
- Molecular Sequence Annotation
- Software