Article

GRIDSS: sensitive and specific genomic rearrangement detection using positional de Bruijn graph assembly

2017-02-21

Abstract excerpt

<h4>ABSTRACT</h4> The identification of genomic rearrangements, particularly in cancers, with high sensitivity and specificity using massively parallel sequencing remains a major challenge. Here, we describe the Genome Rearrangement IDentification Software Suite (GRIDSS), a high-speed structural variant (SV) caller that performs efficient genome-wide break-end assembly prior to variant calling using a novel posit...

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Literature Corpus work: 97f1b0be-ace7-551f-9269-f655299d41ed
DOI: 10.1101/110387

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