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内的基因、蛋白质和功能性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物的标准，并为这些标准的一致应用提供工具和支持，以促进和实现生物学研究的功能注释。GO提供了具体的分类，包括定义良好的生物学描述性术语，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领域的专业化和部分层次。GO分类独立于任何特定的技术，术语与技术的分离，鼓励利用广泛技术环境的生物注释组应用这些语义标准。GO已被广泛应用于模式生物基因组复杂生物信息的表示，并越来越多地用于新兴基因组的功能注释。随着GO使用的增加，联盟必须积极努力确保本体论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)我们将保持逻辑严谨和生物学精确的本体；2)确保使用GO对包括人类在内的参考基因组进行全面标注；3)我们将支持GO对新兴基因组和社区特别感兴趣的特殊基因和蛋白质的注释工作；4)我们将为研究界提供注释和工具，从而支持实验生物学家、基因组信息学家和计算生物学家在他们的研究中使用GO注释，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结果基础分子系统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.