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.
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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
