瓶颈
基因组
计算生物学
生殖系
注释
人类基因组
生物
体细胞
计算机科学
遗传学
基因
嵌入式系统
作者
Colby Chiang,Ryan M. Layer,Gregory G. Faust,Michael Lindberg,David B Rose,Erik Garrison,Gábor Marth,Aaron R. Quinlan,Ira M. Hall
出处
期刊:Nature Methods
[Springer Nature]
日期:2015-08-10
卷期号:12 (10): 966-968
被引量:512
摘要
SpeedSeq is an open-source software suite offering very fast, accurate and comprehensive analysis of single-nucleotide and structural variants from whole genome sequencing data. 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.
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