Alternative splicing analysis benchmark with DICAST

Amit Fenn,Olga Tsoy, Tim Faro, Fanny Rössler, Alexander Dietrich,Johannes Kersting, Zakaria Louadi,Chit Tong Lio, Uwe Völker,Jan Baumbach, Tim Kacprowski,Markus List

biorxiv(2022)

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摘要
Alternative splicing is a major contributor to transcriptome and proteome diversity in health and disease. A plethora of tools have been developed for studying alternative splicing in RNA-seq data. Previous benchmarks focused on isoform quantification and mapping. They neglected event detection tools, which arguably provide the most detailed insights into the alternative splicing process. DICAST offers a modular and extensible framework for the analysis of alternative splicing integrating 11 splice-aware mapping and eight event detection tools. We benchmark all tools extensively on simulated as well as whole blood RNA-seq data. STAR and HISAT2 demonstrated the best balance between performance and run time. The performance of event detection tools varies widely with no tool outperforming all others. DICAST allows researchers to employ a consensus approach to consider the most successful tools jointly for robust event detection. Furthermore, we propose the first reporting standard to unify existing formats and to guide future tool development. ### Competing Interest Statement The authors have declared no competing interest.
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