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首页> 外文期刊>BMC Bioinformatics >SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects
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SNiPlay: a web-based tool for detection, management and analysis of SNPs. Application to grapevine diversity projects

机译:SNiPlay:用于检测,管理和分析SNP的基于Web的工具。应用于葡萄多样性项目

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摘要

Background High-throughput re-sequencing, new genotyping technologies and the availability of reference genomes allow the extensive characterization of Single Nucleotide Polymorphisms (SNPs) and insertion/deletion events (indels) in many plant species. The rapidly increasing amount of re-sequencing and genotyping data generated by large-scale genetic diversity projects requires the development of integrated bioinformatics tools able to efficiently manage, analyze, and combine these genetic data with genome structure and external data. Results In this context, we developed SNiPlay, a flexible, user-friendly and integrative web-based tool dedicated to polymorphism discovery and analysis. It integrates: 1) a pipeline, freely accessible through the internet, combining existing softwares with new tools to detect SNPs and to compute different types of statistical indices and graphical layouts for SNP data. From standard sequence alignments, genotyping data or Sanger sequencing traces given as input, SNiPlay detects SNPs and indels events and outputs submission files for the design of Illumina's SNP chips. Subsequently, it sends sequences and genotyping data into a series of modules in charge of various processes: physical mapping to a reference genome, annotation (genomic position, intron/exon location, synonymouson-synonymous substitutions), SNP frequency determination in user-defined groups, haplotype reconstruction and network, linkage disequilibrium evaluation, and diversity analysis (Pi, Watterson's Theta, Tajima's D). Furthermore, the pipeline allows the use of external data (such as phenotype, geographic origin, taxa, stratification) to define groups and compare statistical indices. 2) a database storing polymorphisms, genotyping data and grapevine sequences released by public and private projects. It allows the user to retrieve SNPs using various filters (such as genomic position, missing data, polymorphism type, allele frequency), to compare SNP patterns between populations, and to export genotyping data or sequences in various formats. Conclusions Our experiments on grapevine genetic projects showed that SNiPlay allows geneticists to rapidly obtain advanced results in several key research areas of plant genetic diversity. Both the management and treatment of large amounts of SNP data are rendered considerably easier for end-users through automation and integration. Current developments are taking into account new advances in high-throughput technologies. SNiPlay is available at: http://sniplay.cirad.fr/ webcite .
机译:背景技术高通量重测序,新的基因分型技术和参考基因组的可用性允许对许多植物物种中的单核苷酸多态性(SNP)和插入/缺失事件(indels)进行广泛的表征。由大规模遗传多样性项目产生的重测序和基因分型数据的数量迅速增加,需要开发能够有效管理,分析这些遗传数据并将其与基因组结构和外部数据结合起来的集成生物信息学工具。结果在这种情况下,我们开发了SNiPlay,这是一种灵活,易于使用且基于Web的集成式工具,专门用于多态性发现和分析。它集成了:1)可以通过互联网免费访问的管道,将现有软件与新工具结合起来,可以检测SNP并计算SNP数据的不同类型的统计指标和图形布局。通过输入的标准序列比对,基因分型数据或Sanger测序迹线,SNiPlay可以检测SNP和插入缺失事件,并输出提交文件以用于Illumina的SNP芯片设计。随后,它将序列和基因分型数据发送到负责各种过程的一系列模块中:物理映射到参考基因组,注释(基因组位置,内含子/外显子位置,同义/非同义替换),用户中SNP频率确定-确定的群体,单倍型重构和网络,连锁不平衡评估和多样性分析(Pi,Watterson的Theta,Tajima的D)。此外,管道还允许使用外部数据(例如表型,地理起源,分类,分层)来定义组并比较统计指标。 2)一个数据库,存储由公共和私人项目发布的多态性,基因分型数据和葡萄序列。它允许用户使用各种过滤器(例如基因组位置,缺失数据,多态性类型,等位基因频率)检索SNP,比较群体之间的SNP模式,并以各种格式导出基因分型数据或序列。结论我们对葡萄遗传项目的实验表明SNiPlay使遗传学家可以在植物遗传多样性的几个关键研究领域中迅速获得先进的结果。通过自动化和集成,最终用户可以更轻松地管理和处理大量SNP数据。当前的发展正在考虑高通量技术的新进展。 SNiPlay可从以下网站获得:http://sniplay.cirad.fr/ webcite。

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