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 (Author)
Other Authors: Massachusetts Institute of Technology. Department of Biology (Contributor), Koch Institute for Integrative Cancer Research at MIT (Contributor)
Format: Article
Language:English
Published: Springer Science and Business Media LLC, 2020-04-30T17:31:22Z.
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Online Access:Get fulltext
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042 |a dc 
100 1 0 |a Regev, Aviv  |e author 
100 1 0 |a Massachusetts Institute of Technology. Department of Biology  |e contributor 
100 1 0 |a Koch Institute for Integrative Cancer Research at MIT  |e contributor 
245 0 0 |a Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods 
260 |b Springer Science and Business Media LLC,   |c 2020-04-30T17:31:22Z. 
856 |z Get fulltext  |u https://hdl.handle.net/1721.1/124943 
520 |a 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. 
520 |a National Cancer Institute (U.S.) (Grant U24CA180922) 
520 |a National Cancer Institute (U.S.) (Grant R50CA211461) 
520 |a National Cancer Institute (U.S.) (Grant R21CA209940) 
520 |a National Cancer Institute (U.S.) (Grant U01CA214846) 
546 |a en 
655 7 |a Article 
773 |t 10.1186/s13059-019-1842-9 
773 |t Genome biology