Jacqueline Neubauer and colleagues present a whole exome sequencing analysis in Sudden death of healthy young adults (SUD) in order to identify potentially diease-causing mutations. They identified variants in long QT syndrome (LQTS)-associated genes (KCNH2, SCN5A) and also in other two genes involved in mitral valve prolapse and thoracic aortic aneurism (DCHS1, TGFB2).
Neubauer, Jacqueline et al. International Journal of Legal Medicine.
"We have found Alamut to be an immensely useful tool, and would recommend Alamut to anyone looking for a powerful yet straightforward software program that is able to accurately catalogue and evaluate mutations."
JOHN GARCIA, Invitae
San Francisco, USA