Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads

Bioinformatics. 2012 Apr 1;28(7):1024-5. doi: 10.1093/bioinformatics/bts064. Epub 2012 Feb 1.

Abstract

Summary: We developed Breakpointer, a fast algorithm to locate breakpoints of structural variants (SVs) from single-end reads produced by next-generation sequencing. By taking advantage of local non-uniform read distribution and misalignments created by SVs, Breakpointer scans the alignment of single-end reads to identify regions containing potential breakpoints. The detection of such breakpoints can indicate insertions longer than the read length and SVs located in repetitve regions which might be missd by other methods. Thus, Breakpointer complements existing methods to locate SVs from single-end reads.

Availability: https://github.com/ruping/Breakpointer

Contact: ruping@molgen.mpg.de

Supplementary information: Supplementary material is available at Bioinformatics online.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Algorithms*
  • Artifacts
  • Computational Biology / methods*
  • Genomic Structural Variation*
  • Humans
  • Sequence Analysis, DNA / methods*