Open AccessGustaf: Detecting and correctly classifying SVs in the NGS twilight zone
Author(s) -
Kathrin Trappe,
AnneKatrin Emde,
HansChristian Ehrlich,
Knut Reinert
Publication year - 2014
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btu431
Subject(s) - benchmark (surveying) , computer science , breakpoint , source code , programming language , biology , genetics , chromosomal translocation , cartography , geography , gene
The landscape of structural variation (SV) including complex duplication and translocation patterns is far from resolved. SV detection tools usually exhibit low agreement, are often geared toward certain types or size ranges of variation and struggle to correctly classify the type and exact size of SVs.
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