Analysis of 60 706 Exomes Questions the Role of De Novo Variants Previously Implicated in Cardiac Disease [Original Articles]

Conclusions— We observed numerous de novo variants associated with cardiac disease as standing variation in ExAC, thus these variants are less likely monogenetic causes or major risk contributors for cardiac disease. This highlights the importance of investigating the pathogenicity of de novo variants because they are not as exclusive and pathogenically evident as presumed previously.
Source: Circulation: Cardiovascular Genetics - Category: Cardiology Authors: Tags: Arrhythmias, Sudden Cardiac Death, Genetics, Cardiomyopathy, Congenital Heart Disease Original Articles Source Type: research