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bioRxiv · 10.1101/028217

Resolving Complex Structural Genomic Rearrangements using a Randomized Approach

Xuefang Zhao·Sarah B. Emery·Bridget Myers·Jeffrey M. Kidd·Ryan E. Mills
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Abstract

Complex chromosomal rearrangements consist of structural genomic alterations involving multiple instances of deletions, duplications, inversions, or translocations that co-occur either on the same chromosome or represent different overlapping events on homologous chromosomes. We present SVelter, an algorithm that first identifies regions of the genome suspected to harbor a complex event and then iteratively rearranges the local genome structure, in a randomized fashion, with each structure scored against characteristics of the observed sequencing data. We show that SVelter is able to accurately reconstruct these regions when compared to well-characterized genomes that have been deep sequenced with both short and long read technologies.

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Xuefang Zhao, Sarah B. Emery, Bridget Myers, Jeffrey M. Kidd, Ryan E. Mills. 2015-10-04. Resolving Complex Structural Genomic Rearrangements using a Randomized Approach. https://doi.org/10.1101/028217

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