Gene Analysis Core

项目摘要 消化健康中心（DHC）基因分析核心的总体目标是提供DHC 研究人员与完全集成的服务，以促进遗传学和基因组学的研究，使用先进的 仪器，可靠的协议，以及实验规划和执行的知识。核心追求 这个目标有四个互补的目标。在第一个目标“发展一个综合服务结构， 在基因序列和功能方面，“核心将全面的服务组合整合为一个 一个由实验室共同领导的业务单位，提供基于基因的分析和专家 生物信息学家和蛋白质定量技术。这一结构便于咨询和服务 DHC调查人员的请求，明确定义的服务请求流程，监控进度，以及 数据共享第二个目标是“使用尖端检测方法生成基因组学数据，以评估基因组学。 序列和功能，“核心使DHC调查员精简。第三个目标是“ 为遗传学和基因组学研究提供生物信息学咨询和分析，”核心为成员提供 优化实验设计，技术选择，生物信息学和功能的机会 由基因序列和表达实验室产生的大型数据集的注释。 生物信息学家使用完善的工作流程和计算方法， 技术，开发改进的元数据标准，用于在多个 级别的粒度，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 分析管道，以满足调查人员的需求，使用强大的计算集群环境，并在一个 通过行业质量的防火墙系统确保时尚安全。在第四个目标中，“使基因的验证成为可能， 核心研究为研究人员提供了在蛋白质水平上验证 使用体液、细胞表面和细胞内的互补测定法来检测基因和基因组的表达 环境基因分析核心管理的服务组合得到DHC的高度订阅 研究人员，并已链接到同行评审的原始出版物的高科学产出， 与消化系统疾病有关。

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.