September 22, 2019  |  

Combining probabilistic alignments with read pair information improves accuracy of split-alignments.

Authors: Shrestha, Anish M S and Yoshikawa, Naruki and Asai, Kiyoshi

Split-alignments provide base-pair-resolution evidence of genomic rearrangements. In practice, they are found by first computing high-scoring local alignments, parts of which are then combined into a split-alignment. This approach is challenging when aligning a short read to a large and repetitive reference, as it tends to produce many spurious local alignments leading to ambiguities in identifying the correct split-alignment. This problem is further exacerbated by the fact that rearrangements tend to occur in repeat-rich regions.We propose a split-alignment technique that combats the issue of ambiguous alignments by combining information from probabilistic alignment with positional information from paired-end reads. We demonstrate that our method finds accurate split-alignments, and that this translates into improved performance of variant-calling tools that rely on split-alignments.An open-source implementation is freely available at: data are available at Bioinformatics online.

Journal: Bioinformatics
DOI: 10.1093/bioinformatics/bty398
Year: 2018

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