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Enhanced structural variant and breakpoint detection using SVMerge by integration of multiple detection methods and local assembly
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 b...
| Autores principales: | , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3046488/ https://www.ncbi.nlm.nih.gov/pubmed/21194472 http://dx.doi.org/10.1186/gb-2010-11-12-r128 |