Using long-read RNA sequencing to decipher the role of RNA isoforms in disease

Abstract

Accurate quantification of genes and their mRNA products is essential to understanding health and disease. In humans, processes such as alternative splicing cause almost all genes to express multiple mRNA products (isoforms), which can have different functions. In addition, aberrant splicing is a common cause of disease. Standard short-read RNA sequencing (RNA-seq) methodologies have limitations in identifying isoforms. In contrast, long-read RNA-seq can address this challenge by covering the entire mRNA sequence in a single read and so identify and quantify the isoforms present. We have utilised long-read RNA-seq to characterise isoforms involved in disease risk, genetic disease and viral i..