New genetic approach identified genetic variants likely responsible for dilated cardiomyopathy
Whole genome sequencing effective for identifying the cause of dilated cardiomyopathy - science news in brief

Dilated cardiomyopathy is a condition characterized by decreased blood pumping due to an enlarged and weakened left ventricle. In an effort to identify the causes of this disease, a team of scientists used whole genome sequencing (WGS) to screen for genetic causes. The study detected three likely genetic variants which were missed by another standard test (multigene panel sequencing). “The potential of structural variants to contribute to diagnoses of genetic diseases such as Familial Cardiomyopathy has not been realized, due to the difficulty in detecting them comprehensively and reliably,” said Dr. André Minoche, one of the scientists involved in the research. To overcome this the study used a new genetic tool able to make these variants accessible in clinical genetic testing,

Read the full story: Kinghorn Center for Clinical Genomics
Scientific publication: Genetics in Medicine