INV02 High throughput functional assays to improve interpretation of rare variants discovered in neuromuscular disease genes

The rapidly increasing list of variants of uncertain significance (VUS) discovered in individuals and our inability to interpret clinical consequences of these rare variants is an unappreciated challenge in the diagnosis of rare diseases. Dystroglycanopathies are caused by mutations in enzymes involved in the glycosylation of alpha-dystroglycan (alpha-DG). The underlying pathogenic variants are typically ultra-rare with many unique to affected families. We developed an adaptable workflow called SMuRF (Saturation Mutagenesis-Reinforced Functional assays).
Source: Neuromuscular Disorders - Category: Neurology Authors: Tags: UNDERSTANDING PHENOTYPIC AND GENETIC DIVERSITY IN NEUROMUSCULAR DISORDERS 1 Source Type: research