He W, Zhao S, Liu X, Dong S, Lv J, Liu D, Wang J, Meng Z
School of Bioscience and Bioengineering, South, China University of Technology, Guangzhou, Guangdong, China.
Genet Mol Res. 2013 Dec 4;12(4):6275-83. doi: 10.4238/2013.December.4.15.
Large-scale next-generation sequencing (NGS)-based resequencing detects sequence variations, constructs evolutionary histories, and identifies phenotype-related genotypes. However, NGS-based resequencing studies generate extraordinarily large amounts of data, making computations difficult. Effective use and analysis of these data for NGS-based resequencing studies remains a difficult task for individual researchers. Here, we introduce ReSeqTools, a full-featured toolkit for NGS (Illumina sequencing)-based resequencing analysis, which processes raw data, interprets mapping results, and identifies and annotates sequence variations. ReSeqTools provides abundant scalable functions for routine resequencing analysis in different modules to facilitate customization of the analysis pipeline. ReSeqTools is designed to use compressed data files as input or output to save storage space and facilitates faster and more computationally efficient large-scale resequencing studies in a user-friendly manner. It offers abundant practical functions and generates useful statistics during the analysis pipeline, which significantly simplifies resequencing analysis. Its integrated algorithms and abundant sub-functions provide a solid foundation for special demands in resequencing projects. Users can combine these functions to construct their own pipelines for other purposes.
基于大规模下一代测序(NGS)的重测序可检测序列变异、构建进化史并识别与表型相关的基因型。然而,基于NGS的重测序研究产生的数据量极大,使得计算变得困难。对于个体研究人员而言,有效利用和分析这些基于NGS重测序研究的数据仍是一项艰巨的任务。在此,我们介绍ReSeqTools,这是一个功能齐全的工具包,用于基于NGS(Illumina测序)的重测序分析,它可处理原始数据、解读比对结果并识别和注释序列变异。ReSeqTools在不同模块中为重测序分析提供了丰富的可扩展功能,以方便定制分析流程。ReSeqTools设计为使用压缩数据文件作为输入或输出,以节省存储空间,并以用户友好的方式促进更快且计算效率更高的大规模重测序研究。它提供了丰富的实用功能,并在分析流程中生成有用的统计信息,这显著简化了重测序分析。其集成算法和丰富的子功能为重测序项目中的特殊需求提供了坚实的基础。用户可以组合这些功能来构建用于其他目的的自定义流程。