TRAWLING: a Transcriptome Reference Aware of spLIciNG events

biorxiv(2021)

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Abstract
Alternative splicing is critical for human gene expression regulation and plays an important role in multiple human diseases. In this context, RNA sequencing has emerged as powerful approach to detect alternative splicing events. In parallel, fast alignment-free methods have emerged as a viable alternative to quantify gene and transcript level abundance from RNAseq data. However, the ability to detect differential splicing events is dependent on the annotation of the transcript reference provided by the user. Here, we introduce a new reference transcriptome aware of splicing events, TRAWLING, which simplifies the detection of aberrant splicing events in a fast and simple way. In addition, we evaluate the performances and the benefits of aligning transcriptome data to TRAWLING using three different RNA sequencing datasets: whole transcriptome sequencing, single cell RNA sequencing and Digital RNA with pertUrbation of Genes. Collectively, our comprehensive evaluation underlines the value of using TRAWLING in transcriptomic data analysis. Availability and implementation Our code is available at ### Competing Interest Statement During their involvement related to this reported work, all authors were employees and shareholders of Novartis.
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Key words
transcriptome reference aware
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