SUDEP Research Alliance: Systems Medicine Core, Application 3 of 7

 描述(由申请人提供)：该核心将支持SRA项目的数据集成和DNA分析需求，为项目1(具有高风险临床表型的人类法医SUDEP病例和EMU监测的癫痫患者)提交的人类DNA样本提供高密度遗传变异分析。项目3还将提交Dravet的样本 综合征患者来源的ipscs用于分析干细胞诱导的神经元和心肌细胞的克隆完整性。这一核心的一个主要好处是相关教员的专业和科学专业知识。主任John Belmont博士在处理儿童心脏病的大规模基因组管道分析方面拥有长期经验。生物信息学家和统计学家查德·肖博士在个人基因组的变异分析和管理方面拥有出色的研究专长，并拥有处理和整合数量生理学和细胞表型数据的一般统计知识。艾米·麦奎尔博士是翻译基因组数据医学伦理学的先驱，也是遗传信息的一个基本方面，因为在这个项目中基因的生死关系重大。这些人员将由戈德曼博士和诺贝尔斯协助协调这一项目。

 DESCRIPTION (provided by applicant): This core will support data integration and DNA analysis needs of the SRA projects by delivering high density genetic variant profiling of human DNA samples submitted from Project 1 (human forensic SUDEP cases and EMU monitored epilepsy patients with high risk clinical phenotypes). Project 3 will also submit samples of Dravet Syndrome patient-derived IPSCs for analysis of clonal integrity in stem cell-induced neurons and cardiac myocytes. A major benefit of this core is the professional and scientific expertise of the faculty involved. The Director, Dr. John Belmont, has long experience in handling large scale genomic pipeline analysis of pediatric cardiac disease. The bioinformatician and statistician Dr. Chad Shaw has excellent research expertise in variant profiling and curation of personal genomics as well as general statistical knowledge for handling and integration of quantitative physiology and cellular phenotype data. Dr. Amy McGuire, is a pioneer in medical ethics of translational genomic data, and an essential aspect of the genetic information given the life or death import of the genes in this project. These personnel will be assisted in coordinating this project by Dr. Goldman and Noebels.