Epigenomics Data Analysis and Coordination Center at Baylor College of Medicine

描述（由申请人提供）：高密度微阵列和下一代测序技术，加上注释的人类基因组序列的可用性，正在开辟一条全面绘制分子表观遗传模式的道路。可以预期，对表观遗传模式的全面作图和研究（沿基因组序列“水平地”沿着和跨多个分化和发育阶段以及生理条件“垂直地”）将提供对人类发育、生理和疾病的见解。表观基因组学的这一愿景既需要适合高通量数据驱动科学的新型组织模型，也需要创新的网络基础设施。该项目旨在开发这种网络化的网络基础设施，并利用它来整合和协调数据分析和数据管道，涉及指定的参考表观基因组作图中心（REMC），NCBI和其他参与者。该基础设施建立在现已完善的Genboree系统之上，该系统是在众多基因组项目的背景下开发的，最近被用于协调癌症基因组图谱项目的试点阶段。该基础设施将提供可扩展性，以进一步整合新的表观基因组技术，增加数据生产吞吐量，并适应日益多样化的实验和计算方法。使用软件即服务模型、Web服务和语义网技术，该基础设施将有助于整合和协调REMC、NCBI以及越来越多的合作机构和跨地理位置的表观基因组学领域的多学科小组的工作。公共卫生相关性：表观基因组学是研究人类细胞中未编码在基因组DNA中的遗传或稳定变化。表观基因组变化在肥胖、自闭症和癌症等多种疾病中的作用正在显现。重要的是，由于表观基因组学现象受到营养和环境的影响，包括怀孕期间的母体营养，因此对表观基因组学的了解增加可能会通过人类营养和行为的变化来改善健康状况。为了更好地了解人类健康和疾病中的表观基因组现象，NIH表观基因组学路线图倡议提出了对不同发育阶段和生理条件下人体组织中表观基因组模式的全面测绘和研究。高密度微阵列和下一代测序技术，加上注释的人类基因组序列的可用性，正在开辟一条道路，走向全面绘制这种模式。产生的数据数量和多样性将非常大，需要信息基础设施进行适当分析。该项目建立在Genboree系统的基础上，通过互联网进行协作基因组研究，旨在开发这样一个网络化的基础设施，并利用它来整合和协调数据分析和数据管道，涉及指定的参考表观基因组作图中心和NIH表观基因组学路线图倡议的其他参与者。

DESCRIPTION (provided by applicant): High-density microarrays and next-generation sequencing technologies, coupled with the availability of the annotated human genomic sequence, are opening a road toward a comprehensive mapping of molecular epigenetic patterns. It is anticipated that comprehensive mapping and study of epigenetic patterns both "horizontally" along the genomic sequence and "vertically" across multiple differentiation and developmental stages and physiological conditions, will provide insights into human development, physiology, and disease. This vision of epigenomics calls both for novel organizational models suitable for high-throughput data-driven science and for innovative networked cyberinfrastructure. This project aims to develop such networked cyberinfrastructure and employ it to integrate and coordinate data analyses and data pipelines involving designated Reference Epigenome Mapping Centers (REMCs), NCBI, and other participants. The infrastructure builds on the now well established Genboree system which was developed in the context of numerous genome projects and has most recently been employed to coordinate the pilot stage of The Cancer Genome Atlas Project. The infrastructure will provide both scalability for further integration of new epigenomic technologies with increasing data production throughputs and adaptability to accommodate an increasing diversity of experimental and computational methodologies. Using the software-as-a-service model, web services, and semantic web technologies, the infrastructure will help integrate and coordinate efforts of REMCs, NCBI, and an increasing number of collaborating institutions and multi-disciplinary groups in the field of epigenomics working across geographic locations. PUBLIC HEALTH RELEVANCE: Epigenomics is the study of heritable or stable changes in human cells that are not coded in the genomic DNA. The role of epigenomic changes in diseases as diverse as obesity, autism, and cancer is coming to light. Importantly, because epigenomic phenomena are affected by nutrition and environment, including maternal nutrition during pregnancy, increased understanding of epigenomics may lead to better health through changes in human nutrition and behavior. To better understand epigenomic phenomena in human health and disease, the NIH Roadmap Initiative in Epigenomics proposes comprehensive mapping and study of epigenomic patterns in human tissues at different developmental stages and physiological conditions. High-density microarrays and next-generation sequencing technologies, coupled with the availability of the annotated human genomic sequence, are opening a road toward a comprehensive mapping of such patterns. The amount and diversity of data produced will be very large and will require an informatic infrastructure for proper analysis. Building on the established Genboree system for collaborative genomic research over the Internet, this project aims to develop such a networked infrastructure, and employ it to integrate and to coordinate data analyses and data pipelines involving designated Reference Epigenome Mapping Centers and other participants in the NIH Roadmap Initiative in Epigenomics.