Whole exome sequencing as a tool to identify novel causal variants and genes for Brugada syndrome Vrije Universiteit Brussel
Brugada syndrome (BrS) is a cardiac channelopathy inherited as an autosomal dominant trait with incomplete penetrance and variable expression. All published BrS-associated genes have been identified by a classical candidate gene approach, leading to a total genetic diagnostic yield of 30% (with 20% of mutations in the SCN5A gene). Currently available genomics and bioinformatics technologies allow us to identify novel and potentially major genes ...