Recent Advances in Cancer Fusion Transcript Detection

Journal Publication ResearchOnline@JCU
Dorney, Ryley;Dhungel, Bijay P.;Rasko, John E.J.;Hebbard, Lionel;Schmitz, Ulf
Abstract

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