7 of 7 Epi 4K: Copy Number Variants Project

描述(申请人提供)：无墙Epi4K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族的基因组。本项目(7-CNV检测的第7个)的具体目标是从外显子和全基因组序列数据中发现拷贝数变异(CNV)；描述癫痫患者与对照组相比的CNV图景；并在大型病例对照比较研究中评估CNV子集的更广泛影响。基因组科学的埃文·艾希勒博士和儿科和遗传医学的希瑟·梅福德博士将共同指导这一项目。在Epi4K队列中发现新的与疾病相关的CNV将进一步加深我们对癫痫遗传学的理解，并导致新的癫痫基因和通路的识别。

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.