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- Title
DELLY: structural variant discovery by integrated paired-end and split-read analysis.
- Authors
Rausch, Tobias; Zichner, Thomas; Schlattl, Andreas; Stütz, Adrian M; Benes, Vladimir; Korbel, Jan O
- Abstract
The discovery of genomic structural variants (SVs) at high sensitivity and specificity is an essential requirement for characterizing naturally occurring variation and for understanding pathological somatic rearrangements in personal genome sequencing data. Of particular interest are integrated methods that accurately identify simple and complex rearrangements in heterogeneous sequencing datasets at single-nucleotide resolution, as an optimal basis for investigating the formation mechanisms and functional consequences of SVs.
- Publication
Bioinformatics (Oxford, England), 2012, Vol 28, Issue 18, pi333
- ISSN
1367-4811
- Publication type
Journal Article
- DOI
10.1093/bioinformatics/bts378