FusionSeq: a modular framework for finding gene fusions by analyzing paired-end RNA-sequencing data

Genome Biol. 2010;11(10):R104. doi: 10.1186/gb-2010-11-10-r104. Epub 2010 Oct 21.

Abstract

We have developed FusionSeq to identify fusion transcripts from paired-end RNA-sequencing. FusionSeq includes filters to remove spurious candidate fusions with artifacts, such as misalignment or random pairing of transcript fragments, and it ranks candidates according to several statistics. It also has a module to identify exact sequences at breakpoint junctions. FusionSeq detected known and novel fusions in a specially sequenced calibration data set, including eight cancers with and without known rearrangements.

Publication types

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

MeSH terms

  • Base Sequence
  • Cell Line, Tumor
  • Computational Biology / methods*
  • Expressed Sequence Tags
  • Gene Expression Profiling
  • Gene Fusion*
  • Gene Rearrangement
  • Humans
  • Male
  • Molecular Sequence Data
  • Neoplasms / genetics*
  • Prostatic Neoplasms / genetics
  • RNA, Neoplasm / genetics
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, RNA / methods*

Substances

  • RNA, Neoplasm