KOMP2 UM1 Administrative Supplement request to support Mouse Phenotyping Informatics Infrastructure - MPI2

KOMP2 UM1 行政补充请求支持小鼠表型信息学基础设施 - MPI2

• 批准号: 10389721
• 负责人: Steve Brown
• 金额: $ 102.5万
• 依托单位: EUROPEAN MOLECULAR BIOLOGY LABORATORY
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-04-11 至 2022-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10389721
• 关键词: Address; Administrative Supplement; Adult; Aging; Algorithms; Architecture; Area; Atlases; Biomedical Research; Categories; Cell Line; Communities; Complex; Consumption; Data; Data Analyses; Data Coordinating Center; Data Reporting; Data Set; Disease; Disease model; Educational workshop; Embryo; Ensure; Essential Genes; Feedback; Funding; Future; Genes; Genomics; Human; Human Cell Line; Human Genetics; Image; Infrastructure; International; Knock-out; Knockout Mice; Knowledge; Methodology; Methods; Modeling; Mus; Ontology; Output; Paper; Pathway interactions; Patients; Perinatal mortality demographics; Phenotype; Population; Preparation; Process; Production; Progress Reports; Protocols documentation; Publications; Publishing; Quality Control; Reproducibility; Research; Resolution; Resources; Role; Route; Science; Semantics; Specialist; Standardization; Statistical Data Interpretation; System; Testing; Training; Validation; Visualization; Work; Writing; analysis pipeline; archive data; archived data; base; biomedical resource; clinical translation; cloud based; data access; data acquisition; data analysis pipeline; data archive; data infrastructure; data resource; developmental disease; experience; fetal; fetal medicine; follow-up; gene function; genome database; health data; human disease; human model; improved; informatics infrastructure; insight; mouse genome; novel; outreach; phenotypic data; portability; prenatal; social media; symposium; therapeutic target; tool; web portal; web site; working group

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 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 maintained and 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 基因敲除小鼠表型项目（KOMP）是生物医学研究的重要资源 它提供了来自功能很少或未知的基因的无偏基因与表型的关联， 为后续机制研究和资源整合提供菌株， 对罕见和常见疾病的根本原因的系统见解。MPI2联盟 将继续支持KOMP2和IMPC合作伙伴，提供数据采集，分析， 可视化、质量控制和整合这一宝贵的数据集。具体 DCC将为新的KOMP2表型检测制定标准化方案，并继续 支持和加强KOMP2生产和表型中心的数据上传机制。 专业数据管理员将继续执行质量控制并与数据提交者互动 通过QC接口平台来解决问题，并将与MPI2开发人员合作， 自动化QC工具初步统计分析将在数据验证后进行，以快速 告知用户可能感兴趣的菌株。 * 统计分析和注释管道将得到维护和扩展， 测试，如老化研究。鉴定候选疾病模型的表型比较将 通过包括新的疾病人群和更广泛的语义映射来增强 在表型本体之间。 核心数据档案将继续存储所有原始数据及其分析，提供程序化的 访问、推送数据到新资源（如NCBI），并将KOMP2数据与其他EBI集成 资源，如Reactome Pathways和Expression Atlas ● MPI2合作伙伴将继续加强单一接入点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