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鼠类基因组信息学:用于实验鼠的综合知识库系统。

Mouse Genome Informatics: an integrated knowledgebase system for the laboratory mouse.

机构信息

The Jackson Laboratory, Bar Harbor, ME 04609, USA.

出版信息

Genetics. 2024 May 7;227(1). doi: 10.1093/genetics/iyae031.

Abstract

Mouse Genome Informatics (MGI) is a federation of expertly curated information resources designed to support experimental and computational investigations into genetic and genomic aspects of human biology and disease using the laboratory mouse as a model system. The Mouse Genome Database (MGD) and the Gene Expression Database (GXD) are core MGI databases that share data and system architecture. MGI serves as the central community resource of integrated information about mouse genome features, variation, expression, gene function, phenotype, and human disease models acquired from peer-reviewed publications, author submissions, and major bioinformatics resources. To facilitate integration and standardization of data, biocuration scientists annotate using terms from controlled metadata vocabularies and biological ontologies (e.g. Mammalian Phenotype Ontology, Mouse Developmental Anatomy, Disease Ontology, Gene Ontology, etc.), and by applying international community standards for gene, allele, and mouse strain nomenclature. MGI serves basic scientists, translational researchers, and data scientists by providing access to FAIR-compliant data in both human-readable and compute-ready formats. The MGI resource is accessible at https://informatics.jax.org. Here, we present an overview of the core data types represented in MGI and highlight recent enhancements to the resource with a focus on new data and functionality for MGD and GXD.

摘要

鼠类基因组信息学(MGI)是一个由专业人员精心整理的信息资源联盟,旨在利用实验室小鼠作为模型系统,支持人类生物学和疾病的遗传和基因组方面的实验和计算研究。鼠类基因组数据库(MGD)和基因表达数据库(GXD)是 MGI 的核心数据库,它们共享数据和系统架构。MGI 作为一个集成信息的中心社区资源,这些信息来自同行评审出版物、作者提交和主要生物信息学资源,涉及小鼠基因组特征、变异、表达、基因功能、表型和人类疾病模型。为了促进数据的整合和标准化,生物注释科学家使用受控元数据词汇表和生物本体论(例如哺乳动物表型本体论、小鼠发育解剖学、疾病本体论、基因本体论等)的术语进行注释,并应用国际社会基因、等位基因和小鼠品系命名标准。MGI 通过提供 FAIR 兼容的数据,以人类可读和计算就绪的格式为基础科学家、转化研究人员和数据科学家提供服务。MGI 资源可在 https://informatics.jax.org 上访问。在这里,我们概述了 MGI 中表示的核心数据类型,并重点介绍了该资源的最新增强功能,重点介绍了 MGD 和 GXD 的新数据和功能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e5a8/11075557/a46e84300623/iyae031f1.jpg

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