Researcher Maria Carmo Fonseca and her team have just published in Nature Reviews Genetics ‘Tools and tactics for studying alternative splicing’, a review highlighting the latest advances in the study of alternative splicing, a process essential for transcriptome diversity and cellular function.

The article explores how emerging technologies, including long-read sequencing, CRISPR-based approaches and deep learning models, are transforming our understanding of splicing regulation and its role in diseases, from cancer to rare genetic disorders.

“Our genes are not a single script, but a library of stories. Cells choose which one to tell, and we’re finally learning how they rewrite the narrative”, says Maria Carmo Fonseca.

These advances are paving the way for more precise diagnostic strategies and personalised therapies based on individual splicing profiles.

Find out more: https://www.nature.com/articles/s41576-026-00952-4