7 of 7 Epi 4K: Copy Number Variants Project

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DESCRIPTION (provided by applicant): The primary goal of the Epi4K Center Without Walls is to increase understanding of the genetic basis of human epilepsy in order to improve the well-being of patients and family members living with these disorders. This improvement will come in the form of better diagnostics, treatments and cures. To accomplish this goal, Epi4K aims to analyze the genomes of a large number of well-phenotyped epilepsy patients and families collected by investigators from several major research groups. The specific goals of this project (7 of 7 - CNV Detection) are to discover copy number variants (CNVs) from exome and whole genome sequence data; to describe the CNV landscape in epilepsy patients compared to controls; and to evaluate the broader impact of a subset of CNVs in a large case-control comparison study. Dr. Evan Eichler of Genome Sciences and Dr. Heather Mefford of Pediatrics & Genetic Medicine will co-direct this project. The discovery of novel, disease-related CNVs in the Epi4K cohorts will further our understanding of epilepsy genetics and lead to the identification of new epilepsy genes and pathways.