title: Enhanced structural variant and breakpoint detection using SVMerge by integration of multiple detection methods and local assembly.
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.
authors.affiliation: Wellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK. kw10@sanger.ac.uk
authors.forename: Kim
authors.initials: K
authors.lastname: Wong
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Keane
authors.forename: James
authors.initials: J
authors.lastname: Stalker
authors.forename: David J
authors.initials: DJ
authors.lastname: Adams
mesh_terms: D000465:Algorithms; D056905:Chromosome Breakpoints; D030541:Databases, Genetic; D006801:Humans; D016415:Sequence Alignment / Q000379:methods*; D017422:Sequence Analysis, DNA / Q000379:methods*; D012984:Software