MorPhiC Data Resource and Administrative Coordinating Center

MorPhiC数据资源和行政协调中心

• 批准号: 10709019
• 负责人: Anthony John Charles Burdett
• 金额: $ 147.5万
• 依托单位: UNIVERSITY OF MIAMI SCHOOL OF MEDICINE
• 依托单位国家: 美国
• 财政年份: 2022
• 资助国家: 美国
• 起止时间: 2022-09-22 至 2027-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10709019
• 关键词: Alleles; Aloral; Atlases; Big Data to Knowledge; Biological; Biological Assay; Biological Models; Biological Process; Catalogs; Cell Line; Cell model; Cells; Clustered Regularly Interspaced Short Palindromic Repeats; Collaborations; Communities; Complex; Computer software; Controlled Environment; Data; Data Analyses; Data Set; Data Sources; Dependence; Development; Disease; FAIR principles; Feasibility Studies; Foundations; Future; Gene Expression; Genes; Genetic Diseases; Genetic Variation; Genome; Human; Human Genome Project; Infrastructure; Institution; International; Knockout Mice; Leadership; Libraries; Life Cycle Stages; Maps; Metadata; Modeling; Molecular; Mus; National Human Genome Research Institute; Network-based; Phase; Phenotype; Positioning Attribute; Process; Production; Protocols documentation; Quality Control; Reproducibility; Research; Resources; Specific qualifier value; Strategic vision; System; Techniques; Technology; Tissues; Validation; Visualization; Whole Organism; cloud based; computerized data processing; data management; data resource; data standards; experience; gene function; genome wide association study; human model; informatics infrastructure; insight; knock-down; knockout gene; member; model organism; molecular phenotype; operation; portability; programs; research and development; tool; web portal

PROJECT SUMMARY Since the successful conclusion of the Human Genome Project (HGP), significant progress has been made towards the NHGRI strategic vision to characterize the biological function(s) of every human gene. A systematic catalogue of molecular and cellular phenotypic effects of gene knockouts for all human genes in complex cell- based model systems would fill a current gap between direct molecular readouts such as gene expression and whole model organism phenotypes. It would provide another critical tool to characterize the biological functions of all genes towards the strategic vision. The pilot phase of the Molecular and Cellular Phenotypes of Null Alleles in Cells (MorPhiC) program will study the feasibility, scalability, required scope, and utility of such a catalogue to characterize phenotypes associated with genes in tissue- and disease-relevant human cellular model systems. The proposed MorPhiC Data Resource and Administrative Coordinating Center (DRACC) will enable and support the MorPhiC research consortium by providing the highest quality FAIR (findable, accessible, interoperable, reusable) MorPhiC data resource, analyzing, annotating, and disseminating Morphic data, integrating external data/information, and serving as an administrative and coordination center. These functions will be fulfilled in close cooperation and collaborating with the Data Production Research and Development Centers (DPCs) and the Data Analysis and Validation Centers (DAVs) to support rigorous data standards, rich metadata annotations, the highest data and software quality, and reproducibility and portability of data processing and -analysis tools. Members of our team have previously served in leadership positions of several national and international research consortia, including the Human Cell Atlas (HCA), Knockout Mouse Program (KOMP), Genome-Wide Association Studies (GWAS) Catalog, Library of Integrated Network-based Cellular Signatures (LINCS), Illuminating the Druggable Genome (IDG), Big Data to Knowledge (BD2K), and Monarch Initiative. Our team has the technological, scientific, and administrative expertise to successfully operate the Center and complete the Center and Consortium critical functions and deliverables via Specific Aims to 1) Establish and operate the Center, 2) Deploy a state-of-the-art infrastructure to manage data across the entire life cycle, 3) Collate, converge, and deploy cloud-enabled analysis techniques, models and data processing protocols, 4) Create and deploy the MorPhiC Web Portal to provide global access to MorPhiC data, 5) Map and integrate external data sources, and 6) Administer and coordinate the Consortium. Successful completion of these Aims will enable the assessment of feasibility, scalability, required scope, and utility of a MorPhiC Catalogue with the prospect to massively scale the functional characterization of every human gene via phenotype mapping in relevant human model systems.

项目摘要 自人类基因组计划（HGP）圆满结束以来，人类基因组研究取得了重大进展 NHGRI的战略愿景是描述每个人类基因的生物学功能。一个系统 复杂细胞中所有人类基因的基因敲除的分子和细胞表型效应目录- 基于模型的系统将填补目前直接分子读出（如基因表达）和 全模式生物表型。它将提供另一个重要的工具来表征生物功能 所有的基因都朝着战略目标前进。等位基因的分子和细胞表型的初步研究 在细胞（MorPhiC）计划将研究可行性，可扩展性，所需的范围，以及这样一个目录的效用， 表征与组织和疾病相关的人类细胞模型系统中的基因相关的表型。 拟议的MorPhiC数据资源和行政协调中心（DRACC）将使 通过提供最高质量的FAIR（可找到，可访问， 可互操作、可重用）MorPhiC数据资源，分析、注释和传播Morphic数据， 整合外部数据/信息，并作为管理和协调中心。这些功能 将与数据生产研究和开发部门密切合作， 数据中心（DPC）和数据分析和验证中心（DAV），以支持严格的数据标准， 元数据注释、最高的数据和软件质量以及数据的可再现性和可移植性 处理和分析工具。 我们的团队成员曾在多个国家和国际组织担任领导职务。 研究联盟，包括人类细胞图谱（HCA），敲除小鼠计划（KOMP），全基因组 关联研究（GWAS）目录，基于网络的综合细胞特征库（LINCS）， Illuminating the Druggable Genome（IDG）、Big Data to Knowledge（BD2K）和Monarch Initiative。我们的团队已被 技术，科学和行政专业知识，以成功地运作中心，并完成 中心和联合体的关键职能和可交付成果，通过具体目标1）建立和运行 中心，2）部署最先进的基础架构以管理整个生命周期中的数据，3）整理， 融合和部署支持云的分析技术、模型和数据处理协议，4） 创建和部署MorPhiC Web门户，以提供对MorPhiC数据的全局访问，5）地图和 整合外部数据源，6）管理和协调联合体。 成功完成这些目标将能够评估可行性、可扩展性、所需范围， MorPhiC目录的实用性，其前景是大规模地表征每个人的功能 基因通过表型作图在相关的人类模型系统中。