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

描述（由申请人提供）：Epi4K无墙中心的主要目标是增加对人类癫痫遗传基础的了解，以改善患有这些疾病的患者和家庭成员的福祉。这种改善将以更好的诊断、治疗和治愈的形式出现。为了实现这一目标，Epi4K旨在分析来自几个主要研究小组的研究人员收集的大量表型良好的癫痫患者和家庭的基因组。该核心（7个核心中的3个-测序，生物统计学和生物信息学核心）的具体目标是：1)对4000个基因组进行测序和注释；2)开发在整个外显子组数据中调用cnv的计算程序；3)为所有三个项目确定感兴趣的变体并确定优先级；4)在其他病例和对照队列中进行后续基因型分析；5)在Epi4K联盟之间快速有效地共享数据。

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.