3 of 7 Epi4K: Gene discovery in 4,000 epilepsy genomes

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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 core (3 of 7 - Sequencing, Biostatistics, and Bioinformatics Core) are to 1) sequence and annotate 4,000 genomes, 2) develop computational procedures for calling CNVs in whole exome data, 3) identify and prioritize variants of interest for all three projects, 4) conduct follow up genotypin analyses in a cohort of additional cases and controls, and 5) quickly and efficiently share data among the Epi4K consortium.