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SNiPlay3: a web-based application for exploration and large scale analyses of genomic variations

机译:SNiPlay3:基于Web的应用程序用于探索和大规模分析基因组变异

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摘要

SNiPlay is a web-based tool for detection, management and analysis of genetic variants including both single nucleotide polymorphisms (SNPs) and InDels. Version 3 now extends functionalities in order to easily manage and exploit SNPs derived from next generation sequencing technologies, such as GBS (genotyping by sequencing), WGRS (whole gre-sequencing) and RNA-Seq technologies. Based on the standard VCF (variant call format) format, the application offers an intuitive interface for filtering and comparing polymorphisms using user-defined sets of individuals and then establishing a reliable genotyping data matrix for further analyses. Namely, in addition to the various scaled-up analyses allowed by the application (genomic annotation of SNP, diversity analysis, haplotype reconstruction and network, linkage disequilibrium), SNiPlay3 proposes new modules for GWAS (genome-wide association studies), population stratification, distance tree analysis and visualization of SNP density. Additionally, we developed a suite of Galaxy wrappers for each step of the SNiPlay3 process, so that the complete pipeline can also be deployed on a Galaxy instance using the Galaxy ToolShed procedure and then be computed as a Galaxy workflow. SNiPlay is accessible at .
机译:SNiPlay是基于网络的工具,用于检测,管理和分析遗传变异,包括单核苷酸多态性(SNP)和InDels。现在,版本3扩展了功能,以便于轻松管理和利用源自下一代测序技术的SNP,例如GBS(测序基因分型),WGRS(整体gre测序)和RNA-Seq技术。该应用程序基于标准VCF(变量调用格式)格式,提供了一个直观的界面,用于使用用户定义的个体集过滤和比较多态性,然后建立可靠的基因分型数据矩阵以进行进一步分析。也就是说,除了应用程序允许进行的各种放大分析(SNP的基因组注释,多样性分析,单倍型重建和网络,连锁不平衡)之外,SNiPlay3还为GWAS(全基因组关联研究),人群分层,距离树分析和SNP密度可视化。此外,我们为SNiPlay3流程的每个步骤开发了一套Galaxy包装器,以便可以使用Galaxy ToolShed过程将完整的管道部署在Galaxy实例上,然后将其作为Galaxy工作流程进行计算。可通过访问SNiPlay。

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