• Computer Science, Medicine
• Published in Bioinformatics 2012
• DOI:10.1093/bioinformatics/bts378

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

@inproceedings{Rausch2012DELLYSV,
  title={DELLY: structural variant discovery by integrated paired-end and split-read analysis},
  author={Tobias Rausch and Thomas Zichner and Andreas Schlattl and Adrian M. St{\"u}tz and Vladimir Benes and Jan O. Korbel},
  booktitle={Bioinformatics},
  year={2012}
}

• Tobias Rausch, Thomas Zichner, +3 authors Jan O. Korbel

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… CONTINUE READING

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