MASQ: Toward clinical quantification of disease-associated alternative splicing

Alternative splicing (AS) is a post-transcriptional regulatory mechanism that enables individual genes to generate multiple transcript and protein isoforms with distinct structures and functions. It is estimated that AS occurs in approximately 95% of human multi-exon genes,1 and that each human protein-coding pre-mRNA may generate an average of 5–7 spliced isoforms.2 Dysregulated splicing can alter essential biological processes and has been implicated in multiple diseases, including cancer, neurodegenerative disease, developmental and immune disorder.