Biostatistics and Bioinformatics: Core C

（生物统计学和生物信息学（BBC）：核心C） 项目摘要 生物统计学和生物信息学核心（BBC）提供全面和专业的分析工具 对于IDDRC用户谁需要在生物统计学支持，实验设计和/或分析的大型 从DNA测序和同源技术中挑选的数据集。核心有三个组成部分：（1） 生物统计处设在生物统计和流行病学部，为以下方面提供支助： 实验设计，包括临床试验的设计和实验结果的分析。玛丽医生 Putt，核心主任，担任流行病学和生物统计学研究生组副主席， 生物统计学研究生课程主席;（2）生物信息学服务支持基因分析 序列，拷贝数变异（CNVs）和全基因组关联研究。这一努力被寄托在 应用基因组学中心，由Hakon Hakonarson博士领导，他是基因组学和全基因组的先驱 映射. (3)线粒体DNA分析服务支持线粒体DNA（mtDNA）的分析 通过MitoMap系统（http：//www.example.com），精心策划的数据库构思的变体， 由道格拉斯华莱士博士开发和维护（1）。这项工作由线粒体中心负责。 以及华莱士博士指导的表观基因医学。哈科纳森博士和华莱士博士现在加入了 和发育障碍研究中心（IDDRC）担任BBC的联合主任。的重点 核心是确保：（a）对实验设计和统计分析进行严格的质量控制， 从而确保研究得到适当的控制，充分的动力，成本效益和严格的 符合所有道德标准;（B）不受限制地和专业地使用最先进的生物信息学 遗传数据分析的资源，包括核和线粒体。我们的目标是让这些专业知识 提供给所有IDDRC用户，本地和整个IDDRC网络。 与非洲减灾会议使命的相关性：英国广播公司的发展一直密切关注我们的总主题， IDDRC-"基因，大脑和行为"，或努力了解发育障碍的三个间- （a）遗传原基，其引起和/或调节基本上所有发育的 残疾;（B）遗传因素引起的生物化学和神经生理学改变;以及（c） 这些异常行为与遗传和神经生理变化有关， 被认为是发育障碍的表现型。核心集成到多个领域， 生物医学研究，从基础科学到临床转化医学。BBC将提供详细的 了解智力和发育障碍的遗传学。它将进一步确保， 对这些遗传改变的表型结果进行调查和分析 根据严格的统计标准。 资格：这些服务提供给儿童医院的IDDRC批准用户， 费城（CHOP）/宾夕法尼亚州和网络中其他中心的用户。

(BIOSTATISTICS AND BIOINFORMATICS (BBC): CORE C) PROJECT SUMMARY Description: The Biostatistics and Bioinformatics Core (BBC) provides comprehensive and expert analytic tools for IDDRC users who require support in biostatistics, experimental design and/or the analysis of the large datasets culled from DNA sequencing and cognate technologies. The Core has 3 components: (1) The Biostatistics Service, reposed in the Department of Biostatistics and Epidemiology, provides support for experimental design, including the design of clinical trials and the analysis of experimental results. Dr Mary Putt, Core Director, serves as Vice-Chair of the Graduate Group in Epidemiology and Biostatistics and Graduate Program Chair for Biostatistics; (2) The Bioinformatics Service supports the analysis of gene sequences, copy number variants (CNVs) and genome-wide association studies. This effort is reposed in the Center for Applied Genomics, directed by Dr Hakon Hakonarson, a pioneer in genomics and genome-wide mapping. (3) The Mitochondrial DNA Analysis Service supports the analysis of mitochondrial DNA (mtDNA) variants through the MitoMap system (http://mitomap.org), a meticulously curated database conceived, developed and maintained by Dr Douglas Wallace (1). This effort is reposed in the Center for Mitochondrial and Epigenomic Medicine, which Dr Wallace directs. Drs. Hakonarson and Wallace now join the Intellectual and Developmental Disabilities Research Center (IDDRC) as Co-Directors of the BBC. The emphasis of the Core is to assure: (a) Stringent quality control with respect to experimental design and statistical analysis, thereby assuring that studies are properly controlled, adequately powered, cost-effective and in strict conformity with all ethical standards; (b) Unfettered and expert access to state-of-the-art bioinformatics resources for the analysis of genetic data, both nuclear and mitochondrial. Our goal is to make this expertise available to all IDDRC users, both locally and throughout the IDDRC Network. Relevance to IDDRC Mission: The BBC has been developed with careful attention to the overall theme of our IDDRC – “Genes, Brain and Behavior”, or the effort to understand developmental disabilities in three inter- related domains: (a) The genetic anlage which causes and/or modulates essentially all developmental disabilities; (b) The biochemical and neurophysiologic alterations which arise from genetic factors; and (c) The aberrant behaviors which we associate with these genetic and neurophysiologic changes and which we recognize as the phenotypes of developmental disabilities. The Core is integrated into multiple domains of biomedical research, from basic science to clinical translational medicine. The BBC will facilitate detailed understanding of the genetics of intellectual and developmental disabilities (IDD). It will further ensure that investigations of the phenotypic consequences of these genetic alterations are executed and analyzed according to scrupulous statistical criteria. Eligibility: These services are available both to approved users of the IDDRC at Children's Hospital of Philadelphia (CHOP)/Penn and to users at other Centers in the Network.