Author(s): Sindi SS, Onal S, Peng LC, Wu HT, Raphael BJ
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Abstract 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 which can analyze multiple alignments of reads. GASVPro outperforms existing methods with a 50-90\% improvement in specificity on deletions and a 50\% improvement on inversions.
This article was published in Genome Biol
and referenced in Journal of Next Generation Sequencing & Applications