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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Wong, Kim, Keane, Thomas M, Stalker, James, Adams, David J
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2010
Pynciau:
Software
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3046488/
https://ncbi.nlm.nih.gov/pubmed/21194472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/gb-2010-11-12-r128
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