MorPhiC Data Resource and Administrative Coordinating Center

项目总结 自人类基因组计划(HGP)圆满结束以来，人类基因组计划取得了重大进展 迈向NHGRI的战略愿景，以表征每个人类基因的生物功能(S)。一个系统的 复杂细胞中所有人类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直接分子读数之间的电流缺口，如基因表达和 全模型生物体表型。这将为表征生物功能提供另一种关键工具 在所有朝向战略愿景的基因中。空等位基因分子表型和细胞表型的先导阶段 In Cells(Moric)计划将研究此类目录的可行性、可扩展性、所需范围和实用性，以 在与组织和疾病相关的人类细胞模型系统中表征与基因相关的表型。 拟议的形态数据资源和行政协调中心将使 通过提供最高质量的展会(可发现的、可访问的、 可互操作、可重用)形态数据资源，分析、标注和传播形态数据， 整合外部数据/信息，并作为管理和协调中心。这些函数 将在与数据生产研究和开发的密切合作和协作下完成 中心(DPC)和数据分析和验证中心(DAV)支持严格的数据标准，丰富 元数据注释、最高的数据和软件质量以及数据的可重复性和可移植性 处理和分析工具。 我们的团队成员曾在多个国家和国际机构担任过领导职务 研究联盟，包括人类细胞图谱(HCA)、小鼠基因敲除计划(KOMP)，全基因组 联合研究(GWAS)目录、基于网络的综合蜂窝签名库(LINCS)、 阐明可药物基因组(IDG)、大数据到知识(BD2K)和君主倡议。我们队有 技术、科学和管理专业知识，以成功运营该中心并完成 中心和联合体的关键职能和交付内容通过具体目标1)建立和运行 中心，2)部署最先进的基础设施来管理整个生命周期中的数据，3)整理、 融合并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Moric Web门户，以提供对Moric数据的全球访问、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、所需范围和 形态目录在大规模刻画每个人的功能特征方面的应用 在相关的人体模型系统中通过表型映射获得基因。

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.