Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods
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document(1).pdf
Description
Published version
Size
1.67 MB
Format
Adobe PDF
Checksum (MD5)
d4def0dd2c3a1496c65dd8b0b6c7a6c4
Author(s)
Regev, Aviv
Date Issued
October 21, 2019
Journal
Genome biology
Publisher
Springer Science and Business Media LLC
Citation
Haas, Brian J. et al. “Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods.” Genome biology 20 (2019): 213 © 2019 The Author(s)
Version
Final published version
Abstract
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.
MIT Department
Massachusetts Institute of Technology. Department of Biology
Koch Institute for Integrative Cancer Research at MIT
Terms of Use
Creative Commons Attribution 4.0 International license
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DOI of Published Version
https://doi.org/10.1186/s13059-019-1842-9
