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.
"In developing new genetic assays and evaluating the implications of newly identified sequence variations, Alamut helps me work faster and safer to ensure and document quality in assay design and interpretations."
HELGE ROOTWELT M.D. Ph.D.
Oslo University Hospital, Norway