Article
svclassify: a method to establish benchmark structural variant calls.
BMC genomics - 16 Jan 2016
Parikh Hemang, Mohiyuddin Marghoob, Lam Hugo Y K, Iyer Hariharan, Chen Desu, Pratt Mark, Bartha Gabor, Spies Noah, Losert Wolfgang, Zook Justin M, Salit Marc
Abstract excerpt
BACKGROUND: The human genome contains variants ranging in size from small single nucleotide polymorphisms (SNPs) to large structural variants (SVs). High-quality benchmark small variant calls for the pilot National Institute of Standards and Technology (NIST) Reference Material (NA12878) have been developed by the Genome in a Bottle Consortium, but no similar high-quality benchmark SV calls exist for this genome....
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