A Data and Administrative Coordinating Center for the Impact of Genomic Variation on Function Consortium

项目摘要/摘要 IGVF数据管理和协调中心(DACC)的目标是支持IGVF 通过定义和建立一项战略，将所有参与者与项目的科学联系起来。 通过创建将这些数据分发给更大的生物研究社区的访问途径， DACC在科学生产者和消费者之间提供了关键的联系。IGVF 该联盟将通过新颖的实验生成复杂数据类型的实验室聚集在一起 分析，通常集中在单细胞水平的基因表达。这项工作是延伸和正规化的 由实验室使用计算分析整合这些独特的数据，以发现 人类变异、染色体元素和分子表型之间的关联和网络 目的是为了阐明它们在人体细胞和组织中的复杂关系。DACC的 通过创建结构化程序，参与增强了财团创建的数据 核实和确认所有提交的数据，并为下列文件提供流程 描述每个生物样本和化验方法的元数据。以方便访问所有数据 创建后，DACC将构建最先进的数据仓库，设计和开发强大的软件 启用数据提交，并硬化统一的数据处理管道。都是试验性的 计算结果将通过DACC开发的IGVF门户网站提供。门户网站 将集成这些数据资源，并提供增强的搜索和浏览功能，以及 强大的Web服务。DACC将为语义增强的基于图形的搜索开发工具 实验元数据、个体基因组元素、变异和表型，并将实施 方法将这些结果分配到适合于机器学习的矩阵中。超越计算 基础设施，以存储和分发联盟数据，DACC还将发挥行政管理的作用 IGVF的枢纽。联合体科学的蓬勃发展依赖于其 组件，管理这种关系是DACC的责任。这一努力将是 由联盟工作组的管理、科学成果的组织和 出版物，并向指导委员会提供定期报告和反馈。全力支持 社区，DACC将作为一个服务组织，让生物医学研究充分发挥作用 利用IGVF的结果。为此，反腐败委员会将组织和主办财团- 重点和以用户为中心的会议，并将通过包括书面文件在内的多种媒体提供文档 文档、视频教程、网络研讨会和会议演示。的各个组成部分项目 IGVF(DACC，作图，系统特征，遗传网络调节，建模 基因组变异中心和组)将紧密地编织在一起，创建IGVF联盟。

Project Summary/Abstract The goals of the IGVF Data Administrative and Coordinating Center (DACC) are to support the IGVF Consortium by defining and establishing a strategy that connects all participants to the project’s science. By creating avenues of access that distribute these data to the greater biological research community, the DACC provides a critical connection between scientific producers and consumers. The IGVF Consortium brings together laboratories that generate complex data types via novel experimental assays, often focusing at the single-cell level of gene expression. This work is extended and regularized by laboratories that integrate these unique data using computational analyses to discover the associations and networks between human variation, chromosomal elements and molecular phenotypes for the purpose of elucidating their complex relationship in human cells and tissues. The DACC’s participation enhances the data created by the consortium through the creation of structured procedures for the verification and validation of all submitted data and providing processes for the documentation of metadata that describe each biological sample and assay method. To facilitate access to all the data created, the DACC will construct a state of the art data warehouse, design and develop robust software to enable data submission, and harden unified data processing pipelines. All experimental and computational results will be made available via the IGVF Portal, developed by the DACC. The Portal will integrate these data resources and provide enhanced search and browsing capabilities, along with powerful web services. The DACC will develop tools for semantically-enhanced graph-based searches of experiment metadata, individual genomic elements, variation and phenotype, and will implement methods to distribute these results in matrices suitable for machine learning. Beyond computational infrastructure to house and distribute consortium data, the DACC will also function as the administrative hub of the IGVF. Consortium science thrives on clear and forthright communication between its component parts, and it is the DACC’s responsibility to manage this relationship. This effort will be facilitated by management of consortium working groups, organization of scientific results and publications, and providing regular reporting and feedback to the Steering committee. To fully support the community, the DACC will act as a service organization, allowing biomedical research to take full advantage of the results from the IGVF. To this end, the DACC will organize and host consortium- focused and user-focused meetings, and will provide documentation via many media including written documentation, video tutorials, webinars, and meeting presentations. The various component projects of the IGVF (DACC, mapping, systematic characterization, genetic network regulation, modeling of genomic variation centers and groups) will be tightly woven together to create the IGVF Consortium.