P179 Using Long-read RNA sequencing for the identification of novel transcripts in disease-causing muscle genes

A fundamental limitation in asserting a gene-disease association is the interpretation of variants of uncertain significance (VUS), mainly when the genes are associated with multiple phenotypes. Species- and tissue-specific transcript expression plays a vital role in determining the pathogenicity of a variant. Although bulk RNA sequencing of multiple tissues has successfully revealed tissue-specific expression for many genes, short-read RNA sequencing has known limitations in characterizing disease-associated transcripts.

Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: M. Johari, G. Ravenscroft Source Type: research