期刊
GENOME BIOLOGY
卷 11, 期 12, 页码 -出版社
BMC
DOI: 10.1186/gb-2010-11-12-r128
关键词
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资金
- Medical Research Council, UK
- Wellcome Trust
- Cancer Research-UK
- MRC [G0800024] Funding Source: UKRI
- Medical Research Council [G0800024] Funding Source: researchfish
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.
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