Journal
BRIEFINGS IN BIOINFORMATICS
Volume 24, Issue 1, Pages -Publisher
OXFORD UNIV PRESS
DOI: 10.1093/bib/bbac519
Keywords
fusion RNA; chimeric RNA; third-generation sequencing; trans-splicing; transcriptional readthrough
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This review highlights the importance of gene fusions in cancer, including chromosomal rearrangement-independent fusion transcripts and complex fusion structures. It proposes a classification system for gene and transcript fusions and discusses the use of long-read sequencing and bioinformatic tools to detect and characterize fusions.
Extensive investigation of gene fusions in cancer has led to the discovery of novel biomarkers and therapeutic targets. To date, most studies have neglected chromosomal rearrangement -independent fusion transcripts and complex fusion structures such as double or triple -hop fusions, and fusion-circRNAs. In this review, we untangle fusion -related terminology and propose a classification system involving both gene and transcript fusions. We highlight the importance of RNA -level fusions and how long -read sequencing approaches can improve detection and characterization. Moreover, we discuss novel bioinformatic tools to identify fusions in long -read sequencing data and strategies to experimentally validate and functionally characterize fusion transcripts.
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