Su Yin Htun and colleagues conduct a sequencing analysis of the IRF6 gene onfamilies with Demarquay-van der Woude (DVWS) and Popliteal Pterygium (PPS) syndromes. They showed that the case (infant) and two family members are identified as interlinked DVWS-PPS.
Htun, Su Yin et al. JBR Journal of Interdisciplinary Medicine and Dental Science.
"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