Alternative splicing (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.
- 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 varies among human populations.