Gene Analysis Core

项目总结 消化健康中心(DHC)基因分析核心的总体目标是提供DHC 研究人员拥有完全集成的服务，以使用先进的技术促进遗传学和基因组学研究 用于实验计划和执行的仪器、可靠的协议和知识。核心追求 这一目标有四个相辅相成的目标。在第一个目标中“为研究建立一个综合服务结构 关于基因序列和功能，核心将全面的服务组合整合为一项服务 运营单位，由提供基于基因的分析和专家的实验室共同领导 生物信息学家和蛋白质定量技术。这种结构便于咨询和服务 DHC调查人员的请求，具有明确定义的服务请求、进度监控和 数据共享。第二个目标是使用尖端分析方法产生基因组数据以评估基因 序列和功能，“核心使DHC调查人员可以得到简化。在第三个目标中“为了 为遗传学和基因组学研究提供生物信息学咨询和分析 优化实验设计、技术选择、生物信息学和功能的机会 基因序列和表达实验室产生的大型数据集的注释。 生物信息学家使用改进的工作流程和计算方法来完全集成来自Orthogonal的数据 技术，开发改进的元数据标准，用于在多个消化疾病数据集中应用 粒度级别，并为数据访问和探索提供新的解决方案。生物信息学家个性化 使用强大的计算集群环境和在 业界质量的防火墙系统确保时尚安全。第四个目标是“使基因验证成为可能” 核心为研究人员提供了在蛋白质水平上验证 利用互补分析在体液、细胞表面和细胞内表达基因和基因群 环境。由基因分析核心管理的服务组合已获得DHC的高度订阅 并与同行评议的原创出版物的高科学产出有关，这些出版物是 与消化系统疾病相关的。

PROJECT SUMMARY The overall goal of the Gene Analysis Core of the Digestive Health Center (DHC) is to provide DHC investigators with fully integrated services to catalyze research on genetics and genomics using advanced instrumentation, reliable protocols, and knowledge for experimental planning and execution. The Core pursues this goal with four complementary aims. In the First Aim “to develop an integrated service structure for studies on gene sequence and function,” the Core integrates a comprehensive portfolio of services into one operational unit with a shared leadership of laboratories that provide gene-based assays and expert bioinformaticians and protein quantification technologies. This structure facilitates consultation and service requests by DHC investigators, with well-defined processes for service request, monitoring of progress, and data sharing. In the Second Aim “To generate genomics data using cutting edge assays to assess gene sequence and function,” the Core makes available to DHC investigators streamlined. In the Third Aim “to provide bioinformatics consultation and analysis for genetics and genomics studies,” the Core gives members opportunities for the optimization of experimental design, technology selection, bioinformatics, and functional annotation of the large datasets produced by the Gene Sequence and Expression Laboratories. Bioinformaticians use refined workflows and computational approaches to fully integrate data from orthogonal technologies, develop improved metadata standards for application in digestive disease datasets at multiple levels of granularity, and provide new solutions for data access and exploration. Bioinformaticians personalize analytical pipelines to meet the investigators’ needs using powerful computing cluster environment and in a secured fashion by industry-quality firewall systems. And in the Fourth Aim to “enable the validation of gene expression at the protein level,” the Core offers investigators the opportunity to validate at the protein level the expression of gene and gene groups using complementary assays in body fluids, cell surface, and intracellular environment. The service portfolio managed by the Gene Analysis Core has been highly subscribed by DHC investigators and has been linked to a high scientific output in peer-reviewed original publications that are relevant to digestive disease.