International Mammalian Genome Society

logo18th International Mouse Genome Conference

17-22 October 2004, Seattle, USA


Blake JA, Gene Ontology Consortium The

The Jackson Laboratory, Bar Harbor, United States

The goal of the Gene Ontology(GO) Consortium ( is to produce a controlled vocabulary that can be applied to all organisms even as knowledge of gene and protein roles in cells is accumulating and changing. GO provides three structured networks of defined terms to describe gene product attributes. GO is one of the controlled vocabularies of the Open Biological Ontologies effort.

The Gene Ontology development effort focuses on four domains of molecular information:  molecular function, biological process, cellular component, and sequence features.  Over 17,500 terms have been carefully defined and are represented in structured vocabularies that provide hierarchical representations of relationships between terms.  Research scientists are providing their expertise in particular sub-specialties to help with the continued evaluation and update of GO subtrees.

Most Model Organism Databases, including MGI and RGD, are now actively annotating genes and gene products to the GO vocabularies.  Almost 100,000 genes from over 20 model organisms have been hand-annotated to the GO, and tens of thousands more have computational assignments to GO terms.  All GO associations are supported by evidence and citation information.  Current priorities include analysis of annotation consistency between contributing research groups.

In addition to developing the GO resource and supporting genome annotation groups, the GO Consortium hosts Web and database resources to enable researchers to access the GO and to incorporate GO tools into their research pipelines.  Multiple research groups have contribute GO analysis tools that are hosted on the GO web site and that enable statistical analysis of gene product clusters based on shared GO annotations. 

The Gene Ontology Consortium is supported by a P41 grant from the National Human Genome Research Institute (NHGRI) [grant HG002273] and by grants from the European Union RTD Programme "Quality of Life and Management of Living Resources" [QLRI-CT-2001-00981 and QLRI-CT-2001-00015].

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