Alternative splicing, RNA-seq and drug discovery

•RNA-seq is emerging as a powerful technology to study alternative splicing.•RNA mis-splicing can cause cancers and a variety of other human diseases.•To target alternative splicing has led to the development of novel therapeutics.•Splice variants functionally contribute to disease and drug resistan...

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Bibliographic Details
Published in:Drug discovery today 2019-06, Vol.24 (6), p.1258-1267
Main Author: Zhao, Shanrong
Format: Article
Language:English
Subjects:
Alternative Splicing - genetics
Computational Biology - methods
Drug Discovery - methods
Gene Expression Profiling - methods
Genetic Markers - genetics
Humans
Sequence Analysis, RNA - methods
Transcriptome - genetics
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Summary:•RNA-seq is emerging as a powerful technology to study alternative splicing.•RNA mis-splicing can cause cancers and a variety of other human diseases.•To target alternative splicing has led to the development of novel therapeutics.•Splice variants functionally contribute to disease and drug resistance.•Splice variants diversify the repertoire of biomarkers needed for precision medicine. Alternative splicing, hereafter referred to as AS, is an essential component of gene expression regulation that contributes to the diversity of proteomes. Recent developments in RNA sequencing (RNA-seq) technologies, combined with the advent of computational tools, have enabled transcriptome-wide studies of AS at an unprecedented scale and resolution. RNA mis-splicing can cause human disease, and to target alternative splicing has led to the development of novel therapeutics. Splice variants diversify the repertoire of biomarkers and functionally contribute to drug resistance. Our expanding knowledge of AS variation in human populations holds great promise for improving disease diagnoses and ultimately patient care in the era of sequencing and precision medicine.
ISSN:1359-6446
1878-5832
DOI:10.1016/j.drudis.2019.03.030