GNATY: Optimized NGS Variant Calling and Coverage Analysis

作者: Beat Wolf , Pierre Kuonen , Thomas Dandekar

DOI: 10.1007/978-3-319-31744-1_40

关键词:

摘要: Next generation sequencing produces an ever increasing amount of data, requiring increasingly fast computing infrastructures to keep up. We present GNATY, a collection tools for NGS data analysis, aimed at optimizing parts the sequence analysis process reduce hardware requirements. The are developed with efficiency in mind, using multithreading and other techniques speed up analysis. architecture has been verified by implementing variant caller based on Varscan 2 calling model, achieving speedup nearly 18 times. Additionally, flexibility algorithm is also demonstrated applying it coverage Compared BEDtools same results were found but only half time GNATY. increase allows faster more analyse sample multiple settings. software freely available non-commercial usage http://gnaty.phenosystems.com/.

参考文章(11)
Beat Wolf, Pierre Kuonen, Thomas Dandekar, David Atlan, DNAseq Workflow in a Diagnostic Context and an Example of a User Friendly Implementation BioMed Research International. ,vol. 2015, pp. 403497- 403497 ,(2015) , 10.1155/2015/403497
Gareth Highnam, Jason J. Wang, Dean Kusler, Justin Zook, Vinaya Vijayan, Nir Leibovich, David Mittelman, An analytical framework for optimizing variant discovery from personal genomes Nature Communications. ,vol. 6, pp. 6275- 6275 ,(2015) , 10.1038/NCOMMS7275
H. Li, N. Homer, A survey of sequence alignment algorithms for next-generation sequencing. Briefings in Bioinformatics. ,vol. 11, pp. 473- 483 ,(2010) , 10.1093/BIB/BBQ015
Aaron R. Quinlan, Ira M. Hall, BEDTools: a flexible suite of utilities for comparing genomic features Bioinformatics. ,vol. 26, pp. 841- 842 ,(2010) , 10.1093/BIOINFORMATICS/BTQ033
H. Li, R. Durbin, Fast and accurate short read alignment with Burrows–Wheeler transform Bioinformatics. ,vol. 25, pp. 1754- 1760 ,(2009) , 10.1093/BIOINFORMATICS/BTP324
H. Li, B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, G. Marth, G. Abecasis, R. Durbin, , The Sequence Alignment/Map format and SAMtools Bioinformatics. ,vol. 25, pp. 2078- 2079 ,(2009) , 10.1093/BIOINFORMATICS/BTP352
Charles D. Warden, Aaron W. Adamson, Susan L. Neuhausen, Xiwei Wu, Detailed comparison of two popular variant calling packages for exome and targeted exon studies PeerJ. ,vol. 2, ,(2014) , 10.7717/PEERJ.600
H. Thorvaldsdottir, J. T. Robinson, J. P. Mesirov, Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration Briefings in Bioinformatics. ,vol. 14, pp. 178- 192 ,(2013) , 10.1093/BIB/BBS017
Jason O'Rawe, Tao Jiang, Guangqing Sun, Yiyang Wu, Wei Wang, Jingchu Hu, Paul Bodily, Lifeng Tian, Hakon Hakonarson, W Evan Johnson, Zhi Wei, Kai Wang, Gholson J Lyon, None, Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing Genome Medicine. ,vol. 5, pp. 28- 28 ,(2013) , 10.1186/GM432
D. C. Koboldt, Q. Zhang, D. E. Larson, D. Shen, M. D. McLellan, L. Lin, C. A. Miller, E. R. Mardis, L. Ding, R. K. Wilson, VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing Genome Research. ,vol. 22, pp. 568- 576 ,(2012) , 10.1101/GR.129684.111