Mouse Phenotyping Informatics Infrastructure - MP12

项目摘要。 基因敲除小鼠表型项目(KOMP)是 生物医学研究提供无偏见的基因与表型的关联 功能未知或未知的基因，为后续机制提供菌株 跨资源的研究和整合，以提供对 罕见和常见疾病的根本原因。MPI2联盟将继续 为KOMP2和IMPC合作伙伴提供数据采集、分析、 可视化、质量控制和集成这一有价值的数据集。具体地说，就是： PINO-DCC将为新的KOMP2开发标准化协议 进行表型测试，并继续支持和增强数据上传 KOMP2产生和表型中心的机制。专家 数据管理人员将继续执行质量控制并与数据进行交互 提交者通过QC接口平台解决问题，并将发挥作用 与MPI2开发人员一起扩展自动化质量控制工具。初步统计 将在数据验证后执行分析，以快速通知用户 潜在的有趣的菌株。 统计分析和注释管道将扩展为包括 新的测试，如老化研究。表型比较以确定 候选疾病模型将通过纳入新疾病而得到增强 群体和表型之间更广泛的语义映射 本体论。 核心数据档案馆将继续存储所有原始数据及其分析， 提供编程访问，将数据推送到NCBI等新资源， 并将KOMP2数据与其他EBI资源(如Reactome)集成 途径和表达图谱 MPI2合作伙伴将继续加强单一访问点 Www.musehenotype.org门户网站，可编程访问和批量下载 基于用户的反馈，包括部署在线分析 工具

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