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.
"Alamut is the best tool I have used for the annotation of DNA variants. It has a great user interface, combines data from multiple sources and allows for ease of variant interpretation by clinical geneticists."
JORDAN LERNER-ELLIS, Ph.D.
Mt. Sinai Hospital, Toronto