Cyril Mignot and colleagues report a exome sequencing analyses of SYNGAP1 gene on patients with neurodevelopmental disorders. They showed that mutations were distributed throughout the gene, but spared spliced 3′ and 5′ exons. They figured out that seizures in patients with mutations in SYNGAP1 exons 4-5 were more pharmacoresponsive than in patients with mutations in SYNGAP1 exons 8-15.
Mignot, Cyril et al. Journal of Medical Genetics.
"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