Mouse Phenotyping Informatics Infrastructure - Data acquisition, integration, analysis and translation of high throughput mammalian phenotyping data.

小鼠表型信息学基础设施 - 高通量哺乳动物表型数据的数据采集、集成、分析和翻译。

• 批准号: 10798517
• 负责人: Ann-Marie Mallon
• 金额: $ 14.23万
• 依托单位: EUROPEAN MOLECULAR BIOLOGY LABORATORY
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-09-16 至 2027-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10798517
• 关键词: Adopted; Adoption; Biological; Biological Process; Biomedical Research; Communities; Cost Measures; Data; Data Analyses; Data Science; Data Set; Diagnosis; Disease; FAIR principles; Funding; Future; Genes; Genomics; Health; Heart Diseases; Human; Industry; Informatics; International; Machine Learning; Methods; Molecular; Mus; Ontology; Outcome; Pathway interactions; Phenotype; Process; Publishing; Quality Control; Reporting; Repository Operations; Research Methodology; Research Personnel; Resources; Services; Terminology; Translations; United States National Institutes of Health; Visualization; Work; application programming interface; biomedical resource; cloud based; cost; data acquisition; design; gene function; human disease; improved; informatics infrastructure; knowledge graph; knowledge integration; model organism; mouse genome; novel; phenomics; phenotypic data; rare genetic disorder; trustworthiness

PROJECT SUMMARY The International Mouse Phenotyping Consortium (IMPC) is a critical resource for biomedical research providing novel gene-phenotype associations for genes with little or no known function, supplying strains for thousands of mechanistic studies and delivering integration with genomic, phenomic and human disease- relevant information providing improved understanding into the underlying causes of rare and common disease. This project aims to improve the FAIR-ness and TRUST-worthiness of the resource by: ● Improving resource identification with a focus on the actual model organisms produced by the consortium ● Increasing the exposure and adoption of the resource by publishing an IMPC knowledge graph ● Developing a proof of concept to capture cost metrics for long-term sustainability

项目摘要 国际小鼠表型鉴定联盟（IMPC）是生物医学研究的重要资源 为具有很少或未知功能的基因提供新的基因-表型关联， 成千上万的机制研究，并提供与基因组，表型和人类疾病的整合- 提供相关信息，以更好地了解罕见和常见疾病的根本原因， 疾病该项目旨在通过以下方式提高资源的公平性和可信度： * 改进资源鉴定，重点是生物技术生产的实际模式生物。 财团 ●通过发布IMPC知识图谱，提高资源的曝光率和采用率 ●开发概念验证，以获取长期可持续性的成本指标

项目成果

The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease.

• DOI: 10.1093/nar/gkac972
• 发表时间: 2023-01-06
• 期刊: NUCLEIC ACIDS RESEARCH
• 影响因子: 14.9
• 作者: Groza, Tudor;Gomez, Federico Lopez;Mashhadi, Hamed Haseli;Munoz-Fuentes, Violeta;Gunes, Osman;Wilson, Robert;Cacheiro, Pilar;Frost, Anthony;Keskivali-Bond, Piia;Vardal, Bora;McCoy, Aaron;Cheng, Tsz Kwan;Santos, Luis;Wells, Sara;Smedley, Damian;Mallon, Ann-Marie;Parkinson, Helen
• 通讯作者: Parkinson, Helen

Human and mouse essentiality screens as a resource for disease gene discovery

• DOI: 10.1038/s41467-020-14284-2
• 发表时间: 2020-01-31
• 期刊: NATURE COMMUNICATIONS
• 影响因子: 16.6
• 作者: Cacheiro, Pilar;Munoz-Fuentes, Violeta;Kane, Coleen
• 通讯作者: Kane, Coleen