Characterization of Structural variants with single molecule and hybrid sequencing approaches Academic Article uri icon


MeSH Major

  • Algorithms
  • Genomic Structural Variation
  • High-Throughput Nucleotide Sequencing
  • Sequence Analysis, DNA


  • We present MultiBreak-SV, an algorithm to detect structural variants (SVs) from single molecule sequencing data, paired read sequencing data, or a combination of sequencing data from different platforms. We demonstrate that combining low-coverage third-generation data from Pacific Biosciences (PacBio) with high-coverage paired read data is advantageous on simulated chromosomes. We apply MultiBreak-SV to PacBio data from four human fosmids and show that it detects known SVs with high sensitivity and specificity. Finally, we perform a whole-genome analysis on PacBio data from a complete hydatidiform mole cell line and predict 1002 high-probability SVs, over half of which are confirmed by an Illumina-based assembly.

publication date

  • December 15, 2014



  • Academic Article



  • eng

PubMed Central ID

  • PMC4253835

Digital Object Identifier (DOI)

  • 10.1093/bioinformatics/btu714

PubMed ID

  • 25355789

Additional Document Info

start page

  • 3458

end page

  • 66


  • 30


  • 24