INTEGRATING POPULATION GENETICS, IN SILICO AND FUNCTIONAL DATA TO ENABLE PRECISION MEDICINE IN THE EPILEPSIES
Grant number: 1126877 | Funding period: 2017 - 2017
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.
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Joshua Traynelis, Michael Silk, Quanli Wang, Samuel F Berkovic, Liping Liu, David B Ascher, David J Balding, Slave Petrovski
Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases where the genetic architecture has..
Evaluating whole genome sequence data from the Genetic Absence Epilepsy Rat from Strasbourg and its related non-epileptic strain
Pablo M Casillas-Espinosa, Kim L Powell, Mingfu Zhu, C Ryan Campbell, Jessica M Maia, Zhong Ren, Nigel C Jones, Terence J O'Brien, Slave Petrovski
OBJECTIVE: The Genetic Absence Epilepsy Rats from Strasbourg (GAERS) are an inbreed Wistar rat strain widely used as a model of ge..