Authors
Suzanne S Sindi, Selim Önal, Luke C Peng, Hsin-Ta Wu, Benjamin J Raphael
Publication date
2012/3
Journal
Genome biology
Volume
13
Pages
1-25
Publisher
BioMed Central
Description
Paired-end sequencing is a common approach for identifying structural variation (SV) in genomes. Discrepancies between the observed and expected alignments indicate potential SVs. Most SV detection algorithms use only one of the possible signals and ignore reads with multiple alignments. This results in reduced sensitivity to detect SVs, especially in repetitive regions. We introduce GASVPro, an algorithm combining both paired read and read depth signals into a probabilistic model that can analyze multiple alignments of reads. GASVPro outperforms existing methods with a 50 to 90% improvement in specificity on deletions and a 50% improvement on inversions. GASVPro is available at http://compbio.cs.brown.edu/software.
Total citations
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