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

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 meth...

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Veröffentlicht in:	Bioinformatics 2012-09, Vol.28 (18), p.i333-i339
Hauptverfasser:	Rausch, Tobias, Zichner, Thomas, Schlattl, Andreas, Stütz, Adrian M, Benes, Vladimir, Korbel, Jan O
Format:	Artikel
Sprache:	eng
Schlagworte:	Chromosome Mapping - methods Genome, Human Genomic Structural Variation Genomics - methods High-Throughput Nucleotide Sequencing - methods Humans Original Papers Sequence Analysis, DNA - methods Sequence Deletion Software
Online-Zugang:	Volltext
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