Abstract

Accurate quantification and detection of intron retention levels require specialized software. Building on our previous software, we create a suite of tools called IRFinder-S, to analyze and explore intron retention events in multiple samples. Specifically, IRFinder-S allows a better identification of true intron retention events using a convolutional neural network, allows the sharing of intron retention results between labs, integrates a dynamic database to explore and contrast available samples, and provides a tested method to detect differential levels of intron retention.

Highlights

  • Intron retention (IR) occurs when an intron is transcribed into pre-mRNA and remains in the final mRNA

  • IRBase enables the visualization and contrast of IR events as well as data sharing It is essential to visualize and contrast specific intron retention events detected by computational approaches before spending resources on their experimental validation

  • This allows users to understand the transcriptional context of a predicted IR event and to assess whether the event is common to other cell types or specific to their experiment of interest

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Summary

Introduction

Intron retention (IR) occurs when an intron is transcribed into pre-mRNA and remains in the final mRNA. It is a type of alternative splicing that is gaining increased interest in human health and disease research. Detecting IR events poses several specific difficulties. Introns are highly heterogeneous genomic regions, both in length and sequence features. IR levels are generally low and thereby subject to incomplete coverage and higher count overdispersion. Software that is not tuned for IR detection generally performs poorly and databases that provide transcript isoform sequences fail to list many IR events [4, 8]

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