Sofia Cuenca and colleagues present a study to better characterize the genetic basis of Dilated CardioMyopathy (DCM is the most frequent cause of heart transplantation) among patients. They conducted analyses of familial DCM patients by using a panel of genes related to cardiac consditions and showed that NGS technology plus detailed familial studies allow identification of causative mutations in the vast majority of familial DCM cases.
Cuenca, Sofia et al. The Journal of Heart and Lung Transplantation.
"We are very pleased with Alamut since it conveniently streamlines post-sequencing analyses of detected variants. We value the programme user friendliness and its all-in one approach to variant analysis."
PROF. MILAN MACEK Jr. M.D. Ph.D.
Charles University, Prague