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Resolving complex structural genomic rearrangements using a randomized approach

Author:
Zhao, Xuefang, Emery, SarahB., Myers, Bridget, Kidd, JeffreyM., Mills, RyanE.
Source:
Genome biology 2016 v.17 no.1 pp. 126
ISSN:
1474-760X
Subject:
algorithms, chromosome translocation, chromosomes, genome
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.
Agid:
5486374