Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods

Background: Accurate fusion transcript detection is essential for comprehensive characterization of cancer transcriptomes. Over the last decade, multiple bioinformatic tools have been developed to predict fusions from RNA-seq, based on either read mapping or de novo fusion transcript assembly. Resul...

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Bibliographic Details
Main Author: Regev, Aviv
Other Authors: Massachusetts Institute of Technology. Department of Biology
Format: Article
Language:English
Published: Springer Science and Business Media LLC 2020
Online Access:https://hdl.handle.net/1721.1/124943
Description
Summary:Background: Accurate fusion transcript detection is essential for comprehensive characterization of cancer transcriptomes. Over the last decade, multiple bioinformatic tools have been developed to predict fusions from RNA-seq, based on either read mapping or de novo fusion transcript assembly. Results: We benchmark 23 different methods including applications we develop, STAR-Fusion and TrinityFusion, leveraging both simulated and real RNA-seq. Overall, STAR-Fusion, Arriba, and STAR-SEQR are the most accurate and fastest for fusion detection on cancer transcriptomes. Conclusion: The lower accuracy of de novo assembly-based methods notwithstanding, they are useful for reconstructing fusion isoforms and tumor viruses, both of which are important in cancer research.