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Oxford University Press (OUP), Bioinformatics, 18(28), p. i333-i339

DOI: 10.1093/bioinformatics/bts378

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DELLY: structural variant discovery by integrated paired-end and split-read analysis

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

Motivation: 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.