Claire Guissart and colleagues have performed a whole-exome sequenging of an Arab Israeli consanguineous family with a syndromic inherited ataxias. They concluded both SLC52A2 and PEX6 should be included in screening panels for the diagnosis of syndromic inherited ataxias.
Guissart, Claire et al. European Journal of Human Genetics.
"Alamut enables us to interrogate and manage our data with ease. It has an intuitive interface, which brings together a range of routinely used resources, saving a significant amount of time & ensuring a consistent approach to variant interrogation."
KATE THOMSON, FRCPath
Cardiac Service Oxford University Hospitals