Biostatistics and Bioinformatics: Core C

(生物统计和生物信息学(BBC)：CORE C) 项目总结 描述：生物统计和生物信息学核心(BBC)提供全面和专业的分析工具 对于需要在生物统计学、实验设计和/或大型数据分析方面提供支持的IDDRC用户 从DNA测序和同源技术中挑选出来的数据集。核心有3个组件：(1) 生物统计处设在生物统计和流行病学系，为 实验设计，包括临床试验设计和实验结果分析。玛丽博士 PUTT，核心主任，担任流行病学和生物统计学研究生小组副主席 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(CNV)和全基因组关联研究。这一努力依赖于 应用基因组学中心，由基因组学和全基因组学的先驱Hakon Hakonarson博士领导 映射。(3)线粒体DNA分析服务支持线粒体DNA(MtDNA)分析 通过MitoMap系统的变体(http://mitomap.org)，是一个精心策划的数据库， 由道格拉斯·华莱士博士开发和维护(1)。这项工作是在线粒体中心进行的 以及由华莱士博士指导的表观基因组医学。Hakonarson博士和Wallace博士现在加入了知识分子 和发展障碍研究中心(IDDRC)担任英国广播公司联席主任。的重点是 核心是保证：(A)对试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、充足的动力、成本效益和严格的 符合所有道德标准；(B)不受限制地以专家方式获取最先进的生物信息学 分析遗传数据的资源，包括核数据和线粒体数据。我们的目标是让这项专业知识 在当地和整个IDDRC网络上向所有IDDRC用户提供。 与IDDRC使命的相关性：BBC在制定时仔细关注了我们的 IDDRC-“基因、大脑和行为”，或在三个相互之间理解发育障碍的努力 相关领域：(A)导致和/或基本上调节所有发育的遗传原基 残疾；(B)遗传因素引起的生化和神经生理改变；及(C) 我们与这些遗传和神经生理变化有关的异常行为，我们 确认为发育障碍的表型。核心集成到多个领域中 生物医学研究，从基础科学到临床转化医学。英国广播公司将为您提供详细信息 了解智力和发育障碍(IDD)的遗传学。它将进一步确保 对这些基因改变的表型后果进行调查和分析 根据严谨的统计标准。 资格：这些服务适用于#年儿童医院经批准的IDDRC用户 费城(CHOP)/宾夕法尼亚大学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.