novoBreak: local assembly for breakpoint detection in cancer genomes

Nat Methods. 2017 Jan;14(1):65-67. doi: 10.1038/nmeth.4084. Epub 2016 Nov 28.

Abstract

We present novoBreak, a genome-wide local assembly algorithm that discovers somatic and germline structural variation breakpoints in whole-genome sequencing data. novoBreak consistently outperformed existing algorithms on real cancer genome data and on synthetic tumors in the ICGC-TCGA DREAM 8.5 Somatic Mutation Calling Challenge primarily because it more effectively utilized reads spanning breakpoints. novoBreak also demonstrated great sensitivity in identifying short insertions and deletions.

Publication types

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

MeSH terms

  • Algorithms
  • Chromosome Breakpoints
  • Computational Biology
  • Genome, Human
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Mutation / genetics*
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Sequence Analysis, DNA / methods*
  • Software
  • Tumor Cells, Cultured