Is RNA sequencing effective in identifying TTN gene variants?

New data presented at the WMS 2021 virtual congress have highlighted the importance of RNA analysis in titin (TTN) gene expression and the effect of TTN variants (TTNtv) on titin transcripts during splicing events.

Dr Marco Savarese and colleagues from the University of Helsinki, Finland, studied TTNtv gene expression and their complex splicing mechanisms to better understand related titinopathies, including dilated cardiomyopathy and skeletal muscle disorders (SMD).