Guissart, Claire et al. European Journal of Human Genetics. 2015 Dec
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.
"We were early Alamut adopters and this software has become essential to our daily diagnosis lab practice, saving time and reducing mistakes. The intuitivity of use and the new functionalities are a very useful help in our daily work."
PASCALE RICHARD M.D. Ph.D.
Paris, France
©2014-2020 interactive biosoftware - a SOPHiA GENETICS company -All rights reserved