A streamlined method for detecting structural variants in cancer genomes by short read paired-end sequencing

PLoS One. 2012;7(10):e48314. doi: 10.1371/journal.pone.0048314. Epub 2012 Oct 29.

Abstract

Defining the architecture of a specific cancer genome, including its structural variants, is essential for understanding tumor biology, mechanisms of oncogenesis, and for designing effective personalized therapies. Short read paired-end sequencing is currently the most sensitive method for detecting somatic mutations that arise during tumor development. However, mapping structural variants using this method leads to a large number of false positive calls, mostly due to the repetitive nature of the genome and the difficulty of assigning correct mapping positions to short reads. This study describes a method to efficiently identify large tumor-specific deletions, inversions, duplications and translocations from low coverage data using SVDetect or BreakDancer software and a set of novel filtering procedures designed to reduce false positive calls. Applying our method to a spontaneous T cell lymphoma arising in a core RAG2/p53-deficient mouse, we identified 40 validated tumor-specific structural rearrangements supported by as few as 2 independent read pairs.

Publication types

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

MeSH terms

  • Animals
  • Chromosome Aberrations*
  • Chromosome Mapping / methods
  • Computational Biology / methods
  • DNA-Binding Proteins / deficiency
  • DNA-Binding Proteins / genetics
  • Genome / genetics
  • Genomics / methods*
  • Humans
  • Lymphoma, T-Cell / diagnosis
  • Lymphoma, T-Cell / genetics
  • Lymphoma, T-Cell / metabolism
  • Mice
  • Mice, 129 Strain
  • Mice, Inbred C57BL
  • Mice, Knockout
  • Mutation
  • Neoplasms / diagnosis
  • Neoplasms / genetics*
  • Reproducibility of Results
  • Sensitivity and Specificity
  • Sequence Analysis, DNA / methods*
  • Software
  • Tumor Suppressor Protein p53 / deficiency
  • Tumor Suppressor Protein p53 / genetics

Substances

  • DNA-Binding Proteins
  • Rag2 protein, mouse
  • Tumor Suppressor Protein p53