July 7, 2019  |  

Resolving complex structural genomic rearrangements using a randomized approach.

Authors: Zhao, Xuefang and Emery, Sarah B and Myers, Bridget and Kidd, Jeffrey M and Mills, Ryan E

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.

Journal: Genome biology
DOI: 10.1186/s13059-016-0993-1
Year: 2016

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