Gene Ontology Consortium

描述(由申请人提供)：我们的目标是为科学界提供一个一致的、强大的信息环境，用于描述、共享、整合和比较所有生物体内和跨生物体的基因、蛋白质和功能RNA的功能角色。基因本体论(GO)联盟是一个由模式生物数据库和基因组注释小组组成的国际合作组织，他们联合起来建立描述基因组和基因产品的标准，并为持续应用这些标准提供工具和支持，以促进和支持生物学研究。GO提供了特定的分类，包括定义明确的生物描述性术语，这些术语被组织成基因组特征、分子功能、生物过程和细胞成分等领域的专门化和部分层级。GO分类独立于任何特定的技术，这是术语与技术的分离，鼓励利用广泛技术环境的有机体注释组应用这些语义标准。GO已被广泛采用并用于模式生物基因组的复杂生物信息的表示，并越来越多地被用于新兴基因组的功能注释。随着围棋使用的增加，联盟必须积极工作，确保本体的准确性以及注释的一致性和质量，以便这些资源可以可靠地用于推断和做出生物学预测。我们将通过关注四个关键目标来做到这一点：1)我们将保持逻辑上严格的和生物学上精确的本体论；2)我们将确保使用GO对包括人类在内的参考基因组进行全面的注释；3)我们将支持新兴基因组以及那些具有特殊社区兴趣的专门基因和蛋白质集的GO注释工作；以及4)我们将向研究界提供注释和工具，从而支持在他们的研究中使用GO注释的实验生物学家、基因组信息学家和计算生物学家，特别是在功能基因组学和比较生物学领域。这项工作与公共卫生的相关性在于，生物医学和基因组学信息的全面整合和标准化是促进对人类健康和疾病后果的分子系统的理解的重要组成部分。

DESCRIPTION (provided by applicant): Our objective is to provide the scientific community with a consistent, robust information environment for describing, sharing, integrating and comparing the functional roles of genes, proteins and functional RNAs within and across all organisms. The Gene Ontology (GO) Consortium is an international collaboration of model organism database and genome annotation groups who have joined together to establish standards for describing genomes and gene products and to provide tools and support for the consistent application of these standards for functional annotations that facilitate and enable biological research. The GO provides specific classifications including well-defined, biologically descriptive terms that are organized into specialization and part-of hierarchies for the domains of genome feature, molecular function, biological process and cellular component. The GO classifications are independent of any particular technology, an uncoupling of terminology from technology that encourages application of these semantic standards by organism annotation groups that utilize a wide range of technical environments. The GO has been widely adopted and used for representation of complex biological information for model organism genomes, and is increasingly used for the functional annotation of emerging genomes. With the increased use of the GO, the Consortium must actively work to ensure both the accuracy of the ontologies as well as consistency and quality of annotations so that these resources may be reliably used to draw inferences and make biological predictions. We will do so by focusing on four key aims: 1) We will maintain logically rigorous and biologically precise ontologies; 2) We will ensure comprehensive annotation of reference genomes, including human, using the GO; 3) We will support GO annotation efforts for emerging genomes and for those specialized sets of genes and proteins of particular community interest; and 4) We will provide annotations and tools to the research community thus supporting experimental biologists, genome informaticists, and computational biologists who are using GO annotations in their research particularly in the areas of functional genomics and comparative biology. The relevance of this work for public health is that comprehensive integration and standardization of biomedical and genomics information is an essential component of advancing the understanding of the molecular systems underlying human health and disease outcomes.