Recent Advances in Cancer Fusion Transcript Detection
Journal Publication ResearchOnline@JCUAbstract
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.
Journal
Briefings in Bioinformatics
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Volume
24
ISBN/ISSN
1477-4054
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Issue
1
Pages Count
12
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Publisher
Oxford University Press
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EISSN
N/A
DOI
10.1093/bib/bbac519