Overview of fusion detection strategies using next-generation sequencing

Jan Schröder, Amit Kumar, Stephen Q. Wong

Research output: Chapter in Book/Report/Conference proceedingChapter (Book)Otherpeer-review

14 Citations (Scopus)


Structural gene fusion rearrangements leading to aberrant signaling are frequently detected in many cancer types. Gene fusions have significant prognostic and predictive value and are screened as part of molecular pathology testing for patient management. Many bioinformatic approaches have been developed to detect fusion mutations including whole-genome sequencing, targeted-based hybridization capture, and transcriptome-based approaches. Here we describe the most commonly used experimental methods to sequence and identify gene fusions using either DNA or RNA. We contrast experimental approaches both in the research and diagnostic setting and describe typical bioinformatic pipelines and software packages used to identify fusions.

Original languageEnglish
Title of host publicationTumor Profiling
Subtitle of host publicationMethods and Protocols
EditorsSarah S. Murray
Place of PublicationNew York, NY
PublisherHumana Press
Number of pages14
ISBN (Electronic)9781493990047
ISBN (Print)9781493990023
Publication statusPublished - 2019
Externally publishedYes

Publication series

NameMethods in Molecular Biology
ISSN (Print)1064-3745


  • Chimeric transcripts
  • Chromosome rearrangement
  • Fusion detection
  • Gene fusions
  • RNA-seq
  • Structural chromosome abnormalities
  • Whole-genome sequencing

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