svclassify: a method to establish benchmark structural variant calls
Hemang Parikh, Marghoob Mohiyuddin, Hugo Y. K. Lam, Hariharan Iyer, Desu Chen, Mark Pratt, Gabor Bartha, Noah Spies, Wolfgang Losert, Justin M. Zook, Marc L. Salit
svclassify classifies structural variants as true or false positives using multi-technology annotations, achieving high concordance with PCR validation and MetaSV.
BMC Genomics · Jan 16, 2016Peer-reviewedGenomics