Chiang Colby, Layer Ryan M, Faust Gregory G, Lindberg Michael R, Rose David B, Garrison Erik P, Marth Gabor T, Quinlan Aaron R, Hall Ira M
McDonnell Genome Institute, Washington University School of Medicine, St. Louis, Missouri, USA.
Department of Biochemistry and Molecular Genetics, University of Virginia School of Medicine, Charlottesville, Virginia, USA.
Nat Methods. 2015 Oct;12(10):966-8. doi: 10.1038/nmeth.3505. Epub 2015 Aug 10.
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.
SpeedSeq是一个开源基因组分析平台，它能在低成本服务器上于13小时内完成对50倍覆盖度人类基因组的比对、变异检测和功能注释，缓解了通常需要数周计算且需大量专家实际参与的生物信息学瓶颈。SpeedSeq在检测种系和体细胞单核苷酸变异、结构变异、插入和缺失方面，其性能与当前方法相当或更优，并且它还具备用于简化解读的新功能。
