使用 SVMerge 通过整合多种检测方法和局部组装来增强结构变异体和断点检测。
Enhanced structural variant and breakpoint detection using SVMerge by integration of multiple detection methods and local assembly.
机构信息
Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK.
出版信息
Genome Biol. 2010;11(12):R128. doi: 10.1186/gb-2010-11-12-r128. Epub 2010 Dec 31.
Abstract
We present a pipeline, SVMerge, to detect structural variants by integrating calls from several existing structural variant callers, which are then validated and the breakpoints refined using local de novo assembly. SVMerge is modular and extensible, allowing new callers to be incorporated as they become available. We applied SVMerge to the analysis of a HapMap trio, demonstrating enhanced structural variant detection, breakpoint refinement, and a lower false discovery rate. SVMerge can be downloaded from http://svmerge.sourceforge.net.
摘要
我们提出了一个名为 SVMerge 的管道，通过整合来自几个现有的结构变异调用者的调用，来检测结构变异，然后使用局部从头组装对这些调用进行验证和断点细化。SVMerge 是模块化和可扩展的，允许在新的调用者可用时将其合并。我们将 SVMerge 应用于 HapMap 三人组的分析，结果表明它能够增强结构变异的检测、细化断点，并降低假阳性率。SVMerge 可以从 http://svmerge.sourceforge.net 下载。
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