>>>Development of a genetic diagnostic tool based on the analysis of whole exome sequencing (WES) aimed at the study of epilepsy.

Development of a genetic diagnostic tool based on the analysis of whole exome sequencing (WES) aimed at the study of epilepsy.

Torres Quevedo Programme 2015. MINECO

ExoNIM® Plus Epilepsy is the result of this project and represents a technological combination tool (exomes, panels, and Sanger sequencing), optimised to detect mutations and CNVs in samples of patients suffering from epilepsy, creating an extraordinary improvement in the identification of the genetic causes of these pathologies, resulting in a better diagnostic service for these patients. The diagnostic platform development is combined with a clinical database and diagnostic algorithms that integrate data from external databases, which will become a useful and essential working tool in the company, providing a high added value to our analysis. There are currently no combined diagnostic strategies for epilepsy that provide consistent results, reducing the number of tests required.

2018-12-17T16:56:34+01:0017 September , 2018|