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

基因组变异对功能联盟影响的数据和行政协调中心

• 批准号: 10631138
• 负责人: J. Michael Cherry
• 金额: $ 392.24万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-09-01 至 2026-05-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10631138
• 关键词: Biological; Biological Assay; Biomedical Research; Catalogs; Cells; Cellular Assay; Collaborations; Communication; Communities; Complex; Computer Analysis; Computer software; Computing Methodologies; Data; Data Coordinating Center; Data Set; Data Sources; Databases; Documentation; Electronic Mail; Elements; FAIR principles; Feedback; Gene Expression; Genetic; Genetic Variation; Genomics; Goals; Graph; Human; Human Resources; Individual; Informatics; Laboratories; Leadership; Life; Machine Learning; Maps; Metadata; Methodology; Methods; Modeling; National Human Genome Research Institute; Ontology; Participant; Pathway Analysis; Phenotype; Policies; Positioning Attribute; Procedures; Process; Protocols documentation; Public Health; Publications; Regulation; Reporting; Research; Research Personnel; Resources; Retrieval; Role; Sampling; Science; Selection Criteria; Semantics; Services; Software Tools; Specific qualifier value; Standardization; Structure; Students; Technical Expertise; Techniques; Tissues; Update; Variant; Work; Writing; analysis pipeline; biological research; cloud storage; complex data; computer infrastructure; data analysis pipeline; data centers; data harmonization; data integration; data management; data modeling; data resource; data submission; data warehouse; design; distributed data; expectation; experimental study; functional genomics; gene network; genomic variation; graph database; improved; innovation; knowledgebase; meetings; molecular phenotype; novel; online resource; outreach; predictive modeling; privacy preservation; scientific organization; service organization; social media; tool; verification and validation; web services; webinar; working group

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.

项目摘要/摘要 IGVF数据管理和协调中心（DACC）的目标是支持IGVF 通过定义和建立将所有参与者与项目科学联系起来的策略来通过联盟。 通过创建将这些数据分配给更大的生物学研究界的访问途径， DACC在科学生产者和消费者之间提供了关键的联系。 IGVF 财团汇集了通过新型实验生成复杂数据类型的实验室 测定，通常集中在基因表达的单细胞水平上。这项工作已扩展和正规化 通过实验室使用计算分析来集成这些唯一数据的实验室来发现 人变异，染色体元素和分子表型之间的关联和网络 为了阐明其在人类细胞和组织中的复杂关系。 DACC的 参与通过创建结构化程序来增强财团创建的数据 为了验证和验证所有提交的数据并为文档提供流程 描述每个生物样品和测定方法的元数据。促进访问所有数据 创建的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。所有实验和 计算结果将通过DACC开发的IGVF门户提供。门户 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将开发用于基于图形的搜索的工具 实验元数据，个体基因组元素，变异和表型，并将实施 将这些结果分配到适合机器学习的物品的方法。超越计算 DACC的基础架构用于容纳和分销联盟数据，也将充当管理 IGVF的枢纽。财团科学在其清晰和直率的沟通中蓬勃发展 组件零件，这是DACC管理这种关系的责任。这项努力将是 由财团工作组的管理，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。完全支持 社区，DACC将充当服务组织，允许生物医学研究充分 IGVF结果的优势。为此，DACC将组织和主机联盟 - 集中和以用户为中心的会议，并将通过许多媒体提供文档，包括书面 文档，视频教程，网络研讨会和会议演示文稿。各个组件项目 IGVF（DACC，映射，系统表征，遗传网络调节，建模 基因组变异中心和组）将紧密编织在一起，以创建IGVF联盟。