Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults [Original Articles]

Conclusions— Whole exome sequencing is an exceptionally valuable screening tool for its capability to establish the clinical diagnosis of inherited CVDs, particularly for poorly defined cases of sudden cardiac death. By presenting novel candidate genes and their potential disease associations, we also provide evidence for the use of this genetic tool for the identification of novel CVD genes. Creation and sharing of exome databases across centers of care should facilitate the discovery of unknown CVD genes.

http://circgenetics.ahajournals.org/cgi/content/short/10/1/e001573?rss=1

Source: Circulation: Cardiovascular Genetics - January 12, 2017 Category: Cardiology Authors: Seidelmann, S. B., Smith, E., Subrahmanyan, L., Dykas, D., Abou Ziki, M. D., Azari, B., Hannah-Shmouni, F., Jiang, Y., Akar, J. G., Marieb, M., Jacoby, D., Bale, A. E., Lifton, R. P., Mani, A. Tags: Arrhythmias, Sudden Cardiac Death, Genetics, Cardiomyopathy Original Articles Source Type: research