Integrating Population Genetics, In Silico And Functional Data To Enable Precision Medicine In The Epilepsies

Grant number: 1126877 | Funding period: 2017 - 2017

Completed

Abstract

Epilepsy has proven to be a very genetically tractable neurological disorder. However, while we now routinely identify causal mutations in out patient populations, the process of understanding which are contributing versus which are benign background variation becomes critical as we move towards a period where precision medicine is becoming a reality for some patients. This work will focus on bringing together multiple levels of data to explore integrated models of predicting epilepsy variants.