Mouse Phenotyping Informatics Infrastructure - MP12

项目摘要。 敲除小鼠表型项目（KOMP）是一个重要的资源， 生物医学研究，提供公正的基因表型协会，从 功能很少或未知的基因，为后续机制提供菌株 研究和资源整合，以提供对 罕见和常见疾病的根本原因。MPI 2联盟将继续 支持KOMP 2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。具体而言： ● Pheno-DCC将为新的KOMP 2开发标准化协议 表型检测，并继续支持和加强数据上传 KOMP 2生产和表型中心的机制。专家 数据管理员将继续执行质量控制并与数据交互 提交人通过QC接口平台解决问题，并将工作 与MPI 2开发人员一起扩展自动化QC工具。初步统计 数据验证后将进行分析，以快速通知用户 潜在的有趣菌株。 ●统计分析和注释管道将得到扩展， 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的疾病 群体和表型之间更广泛的语义映射 本体论 核心数据档案将继续存储所有原始数据及其分析， 提供编程访问，将数据推送到新的资源，如NCBI， 并将KOMP 2数据与其他EBI资源（如Reactome）集成 途径和表达图谱 ● MPI 2合作伙伴将继续加强单点接入 www.mousephenotype.org门户网站、程序化访问和批量下载 根据用户的反馈，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