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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. 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.

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

> 商业许可源文 · EUROPE_PMC · [CC-BY](https://creativecommons.org/licenses/by/)

书目信息

  • 引用:Haas BJ, Dobin A, Li B, Stransky N, Pochet N, Regev A. (2019). Accuracy assessment of fusion transcript detection via read-mapping and de novo fusion transcript assembly-based methods. Genome biology. PMID 31639029 · PMC6802306 · DOI 10.1186/s13059-019-1842-9
  • 证据类型:BENCHMARK
  • 主题:rna-seq
  • 被引次数(采集时):515
  • 原始记录:[Europe PMC](https://europepmc.org/article/MED/31639029)
  • 来源许可:[CC-BY](https://creativecommons.org/licenses/by/)
  • 作者摘要(按来源许可复用)

    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.

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