Mouse Phenotyping Informatics Infrastructure - MP12

小鼠表型信息学基础设施 - MP12

基本信息

批准号：
9977215
负责人：
Steve Brown
金额：
$ 248.74万
依托单位：
EUROPEAN MOLECULAR BIOLOGY LABORATORY
依托单位国家：
美国
项目类别：
财政年份：
2011
资助国家：
美国
起止时间：
2011-09-16 至 2022-07-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/9977215
关键词：
Address Adult Aging Algorithms Animals Area Atlases Biology Biomedical Research CRISPR/Cas technology Candidate Disease Gene Clinical Communities Computer software Data Data Analyses Data Coordinating Center Data Set Detection Development Disease Disease model Embryo Ensure Feedback Foundations Gene Expression Genes Graph Health Human Image Image Analysis Individual Infrastructure Intuition Knockout Mice Link Manuscripts Methods Modeling Morphology Mus Mutation Ontology Pathway interactions Phenotype Population Procedures Process Production Protocols documentation Quality Control Rare Diseases Reporting Research Resources Role Route Semantics Specialist Staging Standardization Statistical Data Interpretation Testing Training Validation Visualization Work automated analysis base biomedical resource data acquisition data archive data exploration data integration data integrity data mining experience follow-up formycin triphosphate gene function genome wide association study health data human disease human model improved indexing informatics infrastructure insight movie novel outreach phenotypic data social media symposium therapeutic target tool web portal

项目摘要

Project Summary. The Knockout Mouse Phenotyping Project (KOMP) is a critical resource for biomedical research that provides unbiased gene to phenotype associations from genes with little or no-known function, supplying strains for follow-up mechanistic studies and integration across resources to provide new systematic insights into the underlying causes of rare and common disease. The MPI2 Consortium will continue to support KOMP2 and IMPC partners by providing data acquisition, analysis, visualisation, quality control and integration of this valuable dataset. Specifically: ● The Pheno-DCC will develop standardized protocols for new KOMP2 phenotyping tests and continue to support and enhance data upload mechanisms for the KOMP2 production and phenotyping centers. Specialist data wranglers will continue to perform quality control and interact with data submitters through the QC interface platform to address issues and will work with MPI2 developers to extend automated QC tools. Preliminary statistical analysis will be performed after data validation to quickly inform users of potentially interesting strains. ● The statistical analysis and annotation pipelines will be extended to include new tests such as aging studies. The phenotype comparisons to identify candidate disease models will be enhanced by including new disease populations and more extensive semantic mappings between phenotype ontologies. ● The Core Data Archive will continue to store all raw data and its analysis, provide programmatic access, push data to new resources such as NCBI, and integrate KOMP2 data with other EBI resources such as Reactome Pathways and the Expression Atlas ● The MPI2 partners will continue to enhance the single point of access www.mousephenotype.org portal, programmatic access and bulk downloads based on feedback from users including the deployment of online analysis tools

项目摘要。淘汰鼠标表型项目（KOMP）是用于的关键资源生物医学研究为表型关联提供了公正的基因功能几乎没有或未知功能的基因，为后续机械提供菌株跨资源的研究和整合，为您提供新的系统见解罕见和常见疾病的根本原因。 MPI2财团将继续通过提供数据获取，分析，该宝贵数据集的可视化，质量控制和集成。具体来说： ●PHENO-DCC将为新的KOMP2开发标准化协议表型测试并继续支持和增强数据上传 KOMP2生产和表型中心的机制。专家数据包裹器将继续执行质量控制并与数据互动通过QC接口平台提交者来解决问题并将有效使用MPI2开发人员扩展自动化QC工具。初步统计分析将在数据验证后进行，以快速告知用户潜在有趣的菌株。 ●统计分析和注释管道将扩展到包括新测试，例如衰老研究。表型比较以识别候选疾病模型将通过包括新疾病来增强种群和表型之间的更广泛的语义映射本体论。 ●核心数据存档将继续存储所有原始数据及其分析，提供程序化访问，将数据推向新资源，例如NCBI，并将KOMP2数据与其他EBI资源（例如Reactome）集成在一起途径和表达地图集 ●MPI2合作伙伴将继续增强单点访问点 www.mousephenotype.org门户网站，程序化访问和批量下载基于用户的反馈，包括部署在线分析工具