Alan S. Ma and colleagues present a targeted high-throughput sequencing approach for congenital cataracts genetic diagnosis. They showed that targeted NGS in presumed nonsyndromic congenital cataract patients provide significant diagnostic information in both familial and sporadic cases.
Ma, Alan S. et al. Human Mutation.
"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