Mouse Genome Database (MGD): A Core Knowledge Resource for Functional Characterization of the Human Genome

小鼠基因组数据库（MGD）：人类基因组功能表征的核心知识资源

• 批准号: 10570225
• 负责人: CAROL J BULT
• 金额: $ 243.93万
• 依托单位: JACKSON LABORATORY
• 依托单位国家: 美国
• 财政年份: 1997
• 资助国家: 美国
• 起止时间: 1997-07-01 至 2026-01-31
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10570225
• 关键词: Address; Adopted; Algorithmic Software; Alleles; Animal Model; Area; Automobile Driving; Basic Science; Biological; Biological Models; Biological Process; Biology; Biomedical Research; Catalogs; Clinical; Clinical Research; Collaborations; Communication; Communities; Community Outreach; Complex; Computational Biology; Computer software; Data; Data Analyses; Data Commons; Databases; Development; Development Plans; Disease; Disease model; Documentation; Ecosystem; Educational workshop; Ensure; Evolution; Funding; Genes; Genetic; Genetic Variation; Genomic approach; Genomic medicine; Genomics; Genotype; Goals; Health; Human; Human Biology; Human Genetics; Human Genome; Industry; Information Resources; Information Systems; Infrastructure; International; Knowledge; Laboratory mice; Leadership; Maintenance; Medicine; Microtus; Mission; Modality; Molecular; Mus; Mutation; Nomenclature; Online Systems; Ontology; Phenotype; Play; Positioning Attribute; Process; Provider; Research; Research Personnel; Resources; Role; Scientist; Seasons; Secure; Security; Semantics; Services; Source; Standardization; System; Testing; Training; Update; Variant; Work; bioinformatics tool; comparative genomics; cost; cost effective; data curation; data ecosystem; data integration; data modeling; data submission; gene product; genome annotation; genome database; genome editing; genome resource; genome-wide; human disease; human model; improved; information model; infrastructure development; innovation; knowledge commons; knowledgebase; meetings; model organisms databases; mouse genetics; mouse genome; new technology; outreach; public health relevance; social media; software development; tool; translational scientist; virtual

PROJECT SUMMARY As the cost of genome-scale sequencing continues to decrease and new technologies for genome editing become widely adopted, the laboratory mouse is more important than ever as a model system for understanding the biological significance of human genetic variation and for advancing the emergence of genomic medicine. The Mouse Genome Database (MGD) has a unique and strategic role as a community resource for facilitating the use of the laboratory mouse for understanding genomics underlying human biology and disease. MGD serves three major user communities: (i) biomedical researchers who use mouse experimentation to investigate genetic and molecular principles of biology and disease processes, (ii) translational scientists who use the laboratory mouse to model human disease, and (iii) bioinformaticians/ computational biologists who use the rich integrated data MGD provides to develop algorithms and bioinformatics tools for data analysis and interpretation. During the project period, we will continue to curate and integrate new genetic, genomic, variant, functional, phenotypic, and human disease model data essential to researchers using the laboratory mouse in biomedical research. We will make these data freely available through a variety of web-based and programmatic user interfaces. Our core aims include: (i) maintaining the canonical catalog of mouse genome features, (ii) serving as the authoritative data for mouse functional annotations, and (iii) maintaining a comprehensive catalog of mouse mutations and strains and their phenotype and disease model associations. To support our aims, we will maintain cost-effective software, database, and hardware using industry best practices. We will maintain MGD's secure infrastructure through regular maintenance, upgrades, and planned evolution. We will leverage existing software components from the Alliance of Genome Resources and other resources where possible and focus our software development activities on unique infrastructure needed to support our core aims. To ensure the greatest impact of MGD in the broader scientific community, we will provide robust user support and outreach through online user documentation, tutorials, training workshops, and one-on-one assistance using a variety of communication modalities and major social media tools. We will actively solicit community input, data submissions, and collaborations.

项目总结 随着基因组规模测序的成本持续下降，以及基因组编辑的新技术 随着被广泛采用，实验室小鼠作为模型系统比以往任何时候都更加重要 了解人类基因变异的生物学意义并促进 基因组医学。小鼠基因组数据库(MGD)作为一个社区具有独特的战略作用 促进使用实验室小鼠了解人类生物学基础的基因组学的资源 和疾病。MGD服务于三个主要用户群体：(I)使用鼠标的生物医学研究人员 研究生物学和疾病过程的遗传和分子原理的实验，(Ii) 使用实验室小鼠模拟人类疾病的转化科学家，以及(Iii)生物信息学家/ 计算生物学家使用MGD提供的丰富的集成数据来开发算法和 用于数据分析和解释的生物信息学工具。 在项目期间，我们将继续策划和整合新的遗传、基因组、变异、功能和 表型和人类疾病模型数据对研究人员在生物医学中使用实验室小鼠至关重要 研究。我们将通过各种基于网络和编程的用户免费提供这些数据 接口。我们的核心目标包括：(I)维护小鼠基因组特征的规范目录，(Ii)为 作为鼠标功能注释的权威数据，以及(Iii)维护一个全面的目录 小鼠突变和品系及其表型和疾病模型的关联。 为了支持我们的目标，我们将使用业界最佳的方式维护经济高效的软件、数据库和硬件 练习。我们将通过定期维护、升级和规划维护MGD的安全基础设施 进化论。我们将利用基因组资源联盟和其他组织的现有软件组件 尽可能地提供资源，并将我们的软件开发活动集中在所需的独特基础设施上 支持我们的核心目标。 为了确保MGD在更广泛的科学界产生最大影响，我们将提供强大的用户支持 通过在线用户文档、教程、培训研讨会和一对一帮助进行推广 使用各种沟通方式和主要社交媒体工具。我们将积极征集社会各界人士 输入、数据提交和协作。