期刊
NATURE METHODS
卷 12, 期 10, 页码 966-968出版社
NATURE PORTFOLIO
DOI: 10.1038/NMETH.3505
关键词
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资金
- US National Institutes of Health (NIH) [T32 GM007267]
- NIH NHGRI [R01HG006693]
- NIH NHGRI center grant [U54 HG003079]
- NIH New Innovator Award [DP20D006493-01]
- Burroughs Wellcome Fund Career Award
SpeedSeq is an open-source genome analysis platform that accomplishes alignment, variant detection and functional annotation of a 50x 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.
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