Breakfusion: Targeted assembly-based identification of gene fusions in whole transcriptome paired-end sequencing data

  • Ken Chen
  • , John W. Wallis
  • , Cyriac Kandoth
  • , Joelle M. Kalicki-veizer
  • , Karen L. Mungall
  • , Andrew J. Mungall
  • , Steven J. Jones
  • , Marco A. Marra
  • , Timothy J. Ley
  • , Elaine R. Mardis
  • , Richard K. Wilson
  • , John N. Weinstein
  • , Li Ding

Research output: Contribution to journalArticlepeer-review

49 Scopus citations

Abstract

Despite recent progress, computational tools that identify gene fusions from next-generation whole transcriptome sequencing data are often limited in accuracy and scalability. Here, we present a software package, BreakFusion that combines the strength of reference alignment followed by read-pair analysis and de novo assembly to achieve a good balance in sensitivity, specificity and computational efficiency.

Original languageEnglish
Article numberbts272
Pages (from-to)1923-1924
Number of pages2
JournalBioinformatics
Volume28
Issue number14
DOIs
StatePublished - Jul 2012

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