Article

svclassify: a method to establish benchmark structural variant calls

2015-05-16

Abstract excerpt

<h4>Background: </h4> 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 thi...

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Literature Corpus work: e7e814fe-50fc-537d-8e47-e2c62eee6213
DOI: 10.1101/019372

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