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Alternative Splicing

A single human gene expresses a pre-mRNA which contains an average of eight exons separated by long non-coding introns. Alternative pathways of intron removal (alternative splicing) are now assumed to occur in the vast majority of human pre-mRNAs. After realization that there are fewer human genes than originally anticipated, alternative splicing is now considered the leading driver for human protein diversity.

However, although alternative splicing has been a well-studied process for the last 30 years, its complex regulation and consequences are still mostly decrypted. High-throughput sequencing technologies give an opportunity to address the open questions in the field. Using targeted RNA sequencing (padlock technology) we are able to zoom-in and profile differences in alternative splicing between different tissues.

A better understanding of this fundamental process is bound to provide substantial gains in comprehension of other cellular processes.

Moreover, many human diseases, such as cancer and Alzheimer disease, are closely linked to alternative splicing.