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Sequencing Strategies for Fusion Gene Detection


Fusion genes formed by chromosomal rearrangements are common drivers of cancer. Recent innovations in the field of next-generation sequencing (NGS) have seen a dynamic shift from traditional fusion detection approaches, such as visual characterization by fluorescence, to more precise multiplexed methods. There are many different NGS-based approaches to fusion gene detection and deciding on the most appropriate method can be difficult. Beyond the experimental approach, consideration needs to be given to factors such as the ease of implementation, processing time, associated costs, and the level of expertise required for data analysis. Here, the different NGS-based methods for fusion gene detection, the basic principles underlying the techniques, and the benefits and limitations of each approach are reviewed. This article concludes with a discussion of how NGS will impact fusion gene detection in a clinical context and from where the next innovations are evolving.

Type Journal
ISBN 1521-1878 (Electronic) 0265-9247 (Linking)
Authors Heyer, E. E.; Blackburn, J.
Responsible Garvan Author Dr Jim Blackburn
Publisher Name BIOESSAYS
Published Date 2020-07-31
Published Volume 42
Published Issue 7
Published Pages e2000016
Status Published in-print
DOI 10.1002/bies.202000016
URL link to publisher's version