Evaluation of differential splicing tools for RNA-seq studies

Differential splicing (DS) is a post-transcriptional biological process with critical, wide-ranging effects on a plethora of cellular activities and disease processes. To date, a number of computational approaches have been developed to identify and quantify differentially spliced genes from RNA-seq data, but a comprehensive intercomparison and appraisal of these approaches is currently lacking.

In this study, researchers from the Turku Bioscience Centre systematically evaluated 10 DS analysis tools for consistency and reproducibility, precision, recall and false discovery rate, agreement upon reported differentially spliced genes and functional enrichment. The tools were selected to represent the three different methodological categories: exon-based (DEXSeq, edgeR, JunctionSeq, limma), isoform-based (cuffdiff2, DiffSplice) and event-based methods (dSpliceType, MAJIQ, rMATS, SUPPA). Overall, all the exon-based methods and two event-based methods (MAJIQ and rMATS) scored well on the selected measures. Of the 10 tools tested, the exon-based methods performed generally better than the isoform-based and event-based methods. However, overall, the different data analysis tools performed strikingly differently across different data sets or numbers of samples.


Schematic illustration of the comparison of DS tools. In total, 10 different tools were assessed in four different RNA-seq data sets.

Mehmood A, Laiho A, Venäläinen MS, McGlinchey AJ, Wang N, Elo LL. (2019) Systematic evaluation of differential splicing tools for RNA-seq studies. Briefings in Bioinformatics [Epub ahead of print]. [article]

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