NEW GENES AND DISEASES / NGS & RELATED TECHNIQUES: P.330 An approach to prioritizing novel disease gene candidates and investigating their role in muscle biology and disease

Abstract

Although nearly 600 genes are now associated with neuromuscular diseases, 50% or more of patients remain undiagnosed following genomic diagnostics. One reason is that more novel disease genes remain to be identified. Next generation sequencing has greatly enhanced identification of novel human disease genes, especially for recessive diseases. However, it remains difficult to find novel disease genes for small dominant families, as hundreds of candidate rare coding variants may be identified. Many of these variants are in genes with unknown function, and thus have no clear association with disease phenotype.