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Ma, Alan S. et al. Human Mutation.

Ma, Alan S. et al. Human Mutation. 2016 Jan

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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"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."

Mt. Sinai Hospital, Toronto