Abstract

The Gene Ontology resource (GO; http://geneontology.org) provides structured, computable knowledge regarding the functions of genes and gene products. Founded in 1998, GO has become widely adopted in the life sciences, and its contents are under continual improvement, both in quantity and in quality. Here, we report the major developments of the GO resource during the past two years. Each monthly release of the GO resource is now packaged and given a unique identifier (DOI), enabling GO-based analyses on a specific release to be reproduced in the future. The molecular function ontology has been refactored to better represent the overall activities of gene products, with a focus on transcription regulator activities. Quality assurance efforts have been ramped up to address potentially out-of-date or inaccurate annotations. New evidence codes for high-throughput experiments now enable users to filter out annotations obtained from these sources. GO-CAM, a new framework for representing gene function that is more expressive than standard GO annotations, has been released, and users can now explore the growing repository of these models. We also provide the ‘GO ribbon’ widget for visualizing GO annotations to a gene; the widget can be easily embedded in any web page.

Highlights

  • The Gene Ontology resource (GO; http://geneontology.org) is the most comprehensive and widely used knowledgebase concerning the functions of genes

  • The GO structure has been meticulously constructed over the course of 20 years by a small team of ontology developers; it is constantly evolving in response to new scientific discoveries and continuously refined to represent the most current state of biological knowledge

  • Data from high-throughput experiments are generally collected in a hypothesis-free manner, and do not generally provide as strong evidence of gene function as smallscale molecular biology experiments that currently support most of the experimental GO annotations

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Summary

Introduction

The Gene Ontology resource (GO; http://geneontology.org) is the most comprehensive and widely used knowledgebase concerning the functions of genes. This structure of the GO knowledgebase, the ontology plus annotations, supports queries of the sort that are typically asked in the course of biological research, such as: ‘What are all the functions for the human ABCA1 gene?’ or ‘What are all the genes involved in the DNA mismatch

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