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

项目概要/摘要 IGVF数据管理和协调中心（DACC）的目标是支持IGVF 通过定义和建立一个战略，将所有参与者与项目的科学联系起来。 通过创建访问途径，将这些数据分发给更大的生物研究社区， DACC提供了科学生产者和消费者之间的关键联系。IGVF 联盟汇集了实验室，通过新颖的实验生成复杂的数据类型 分析，通常集中在基因表达的单细胞水平。这项工作是延伸和经常化 实验室通过计算分析整合这些独特的数据， 人类变异、染色体元件和分子表型之间的关联和网络 以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，参与增强了联合体创建的数据 对所有提交的数据进行验证和确认，并提供记录 描述每个生物样品和测定方法的元数据。为了方便访问所有数据， DACC将建立一个最先进的数据仓库，设计和开发强大的软件， 以实现数据提交，并强化统一数据处理管道。所有实验和 计算结果将通过DACC开发的IGVF门户网站提供。门户 将整合这些数据资源，并提供增强的搜索和浏览功能，同时沿着 强大的Web服务。DACC将开发用于语义增强的基于图的搜索的工具 实验元数据，个体基因组元素，变异和表型，并将实施 将这些结果分布在适合机器学习的矩阵中的方法。超越计算 作为存放和分发联合体数据的基础设施，DACC还将发挥行政管理的作用， IGVF的中心。联盟科学的蓬勃发展，其之间的明确和直率的沟通， 这是一个重要的组成部分，DACC的责任是管理这种关系。这一努力将是 通过管理联合体工作组、组织科学成果和 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，允许生物医学研究充分利用 IGVF结果的优势。为此，DACC将组织和主办财团- 重点和以用户为中心的会议，并将通过许多媒体提供文件，包括书面 文档、视频教程、网络研讨会和会议演示。的各个组成项目， IGVF（DACC，作图，系统表征，遗传网络调节， 基因组变异中心和组）将紧密地编织在一起，以创建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.