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BMC, Genome Biology, 1(17)

DOI: 10.1186/s13059-016-0993-1

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Resolving Complex Structural Genomic Rearrangements using a Randomized Approach

Journal article published in 2015 by Xuefang Zhao, Sarah B. Emery, Bridget Myers, Jeffrey M. Kidd, Ryan E. Mills ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Postprint: archiving allowed
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Data provided by SHERPA/RoMEO

Abstract

Abstract Complex chromosomal rearrangements are 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 identifies regions of the genome suspected to harbor a complex event and then resolves the structure by iteratively rearranging the local genome structure, in a randomized fashion, with each structure scored against characteristics of the observed sequencing data. SVelter is able to accurately reconstruct complex chromosomal rearrangements when compared to well-characterized genomes that have been deeply sequenced with both short and long reads.