novoBreak: local assembly for breakpoint detection in cancer genomes.

Academic Article


  • 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.
  • Published In

  • Nature methods  Journal
  • Keywords

  • Algorithms, Chromosome Breakpoints, Computational Biology, Genome, Human, High-Throughput Nucleotide Sequencing, Humans, Mutation, Neoplasms, Sequence Analysis, DNA, Software, Tumor Cells, Cultured
  • Digital Object Identifier (doi)

    Author List

  • Chong Z; Ruan J; Gao M; Zhou W; Chen T; Fan X; Ding L; Lee AY; Boutros P; Chen J
  • Start Page

  • 65
  • End Page

  • 67
  • Volume

  • 14
  • Issue

  • 1