Resolving complex structural genomic rearrangements using a randomized approach

Genome Biol. 2016 Jun 10;17(1):126. doi: 10.1186/s13059-016-0993-1.


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.

Keywords: Complex structural rearrangements; Copy number variant (CNV); Human; Sequence analysis; Structural variation (SV).

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms
  • Chromosome Breakpoints
  • Computational Biology / methods*
  • Computer Simulation
  • Gene Rearrangement*
  • Genome, Human*
  • Genomics / methods*
  • Humans
  • Reproducibility of Results
  • Software
  • Translocation, Genetic*
  • Web Browser