Computational methods for intron retention identification and quantification
Other Publication ResearchOnline@JCUAbstract
Alternative splicing is a ubiquitous process that increases transcriptomic and proteomic complexity across the animal kingdom. Intron retention (IR) is a particular form of alternative splicing that is different from the other forms as it only increases transcriptomic complexity but rarely directly affects the proteome. IR has long been neglected as it was considered a mis-splicing event and was referred to as transcriptional noise. However, recent reports have attributed a pivotal role to IR in normal physiology and diseases. Studying IR comes with specific technical and analytical requirements, that enable a robust detection and quantification of this phenomenon. Advances in sequencing technologies and the development of IR calling and quantification software have facilitated numerous novel insights into the complex life of introns. In this chapter, we describe computational methods for the analysis of IR events, their characteristics and conservation, the regulation of IR, and downstream consequences. We also introduce experimental approaches that are used in IR research.
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Publication Name
Reference Module in Biomedical Sciences
Volume
1
ISBN/ISSN
978-0-12-816078-7
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Pages Count
12
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Publisher
Academic Press
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Publisher Location
London Wall, United Kingdom
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DOI
10.1016/b978-0-12-801238-3.11567-3