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      The Gene Ontology resource: enriching a GOld mine

      research-article
      The Gene Ontology Consortium
      Nucleic Acids Research
      Oxford University Press

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          Abstract

          The Gene Ontology Consortium (GOC) provides the most comprehensive resource currently available for computable knowledge regarding the functions of genes and gene products. Here, we report the advances of the consortium over the past two years. The new GO-CAM annotation framework was notably improved, and we formalized the model with a computational schema to check and validate the rapidly increasing repository of 2838 GO-CAMs. In addition, we describe the impacts of several collaborations to refine GO and report a 10% increase in the number of GO annotations, a 25% increase in annotated gene products, and over 9,400 new scientific articles annotated. As the project matures, we continue our efforts to review older annotations in light of newer findings, and, to maintain consistency with other ontologies. As a result, 20 000 annotations derived from experimental data were reviewed, corresponding to 2.5% of experimental GO annotations. The website ( http://geneontology.org) was redesigned for quick access to documentation, downloads and tools. To maintain an accurate resource and support traceability and reproducibility, we have made available a historical archive covering the past 15 years of GO data with a consistent format and file structure for both the ontology and annotations.

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          Most cited references24

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          The FAIR Guiding Principles for scientific data management and stewardship

          There is an urgent need to improve the infrastructure supporting the reuse of scholarly data. A diverse set of stakeholders—representing academia, industry, funding agencies, and scholarly publishers—have come together to design and jointly endorse a concise and measureable set of principles that we refer to as the FAIR Data Principles. The intent is that these may act as a guideline for those wishing to enhance the reusability of their data holdings. Distinct from peer initiatives that focus on the human scholar, the FAIR Principles put specific emphasis on enhancing the ability of machines to automatically find and use the data, in addition to supporting its reuse by individuals. This Comment is the first formal publication of the FAIR Principles, and includes the rationale behind them, and some exemplar implementations in the community.
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            The Gene Ontology Resource: 20 years and still GOing strong

            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.
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              PANTHER version 14: more genomes, a new PANTHER GO-slim and improvements in enrichment analysis tools

              Abstract PANTHER (Protein Analysis Through Evolutionary Relationships, http://pantherdb.org) is a resource for the evolutionary and functional classification of genes from organisms across the tree of life. We report the improvements we have made to the resource during the past two years. For evolutionary classifications, we have added more prokaryotic and plant genomes to the phylogenetic gene trees, expanding the representation of gene evolution in these lineages. We have refined many protein family boundaries, and have aligned PANTHER with the MEROPS resource for protease and protease inhibitor families. For functional classifications, we have developed an entirely new PANTHER GO-slim, containing over four times as many Gene Ontology terms as our previous GO-slim, as well as curated associations of genes to these terms. Lastly, we have made substantial improvements to the enrichment analysis tools available on the PANTHER website: users can now analyze over 900 different genomes, using updated statistical tests with false discovery rate corrections for multiple testing. The overrepresentation test is also available as a web service, for easy addition to third-party sites.
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                Author and article information

                Journal
                Nucleic Acids Res
                Nucleic Acids Res
                nar
                Nucleic Acids Research
                Oxford University Press
                0305-1048
                1362-4962
                08 January 2021
                08 December 2020
                08 December 2020
                : 49
                : D1
                : D325-D334
                Author notes
                To whom correspondence should be addressed. Tel +1 510 225 5216; Email: albou@ 123456usc.edu

                List of authors of the GO Consortium is provided in the Appendix.

                Article
                gkaa1113
                10.1093/nar/gkaa1113
                7779012
                33290552
                1ba84fc4-5ae8-452a-9104-7e9ae0351aab
                © The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 02 December 2020
                : 22 October 2020
                : 15 September 2020
                Page count
                Pages: 10
                Funding
                Funded by: National Human Genome Research Institute, DOI 10.13039/100000051;
                Award ID: U41 HG02273
                Award ID: U41 HG001315
                Award ID: U24 HG002223
                Award ID: U41HG000739
                Award ID: HG 000330
                Award ID: HG 002273
                Award ID: HG 003751
                Award ID: U41HG007822
                Award ID: U41HG002273
                Award ID: U24-HG002223
                Award ID: HG002659
                Award ID: HG010859
                Funded by: National Institute of General Medical Sciences, DOI 10.13039/100000057;
                Award ID: 1R24GM137770-01
                Award ID: R01GM080646
                Award ID: P20GM103446
                Award ID: U01GM120953
                Funded by: National Institutes of Health, DOI 10.13039/100000002;
                Award ID: GM089636
                Award ID: U24HG007822
                Funded by: National Science Foundation, DOI 10.13039/100000001;
                Award ID: 1565146
                Award ID: 1458400
                Award ID: IOS #1127112
                Funded by: EMBL, DOI 10.13039/100013060;
                Funded by: Medical Research Council, DOI 10.13039/501100000265;
                Award ID: MR/N030117/1
                Award ID: MR/S000453/1
                Funded by: Wellcome Trust, DOI 10.13039/100010269;
                Award ID: 108433/Z/15/Z
                Funded by: Biotechnology and Biological Sciences Research Council, DOI 10.13039/501100000268;
                Award ID: BB/N00521X/1
                Award ID: BB/N019172/1
                Award ID: BB/L024136/1
                Award ID: BB/M011674/1
                Award ID: BB/P024610
                Award ID: BB/P024602
                Funded by: Gene Regulation;
                Funded by: Ensemble Effort for the Knowledge Commons;
                Award ID: CA15205
                Funded by: Research Council of Norway, DOI 10.13039/501100005416;
                Award ID: 247727
                Funded by: Alzheimer's Research UK, DOI 10.13039/501100002283;
                Award ID: ARUK-NAS2017A-1
                Funded by: National Institute for Health Research University College London Hospitals Biomedical Research Centre;
                Funded by: European Molecular Biology Laboratory, DOI 10.13039/100013060;
                Award ID: OTAR-044
                Award ID: OTAR02-048
                Funded by: Wellcome Trust, DOI 10.13039/100010269;
                Award ID: 212925/Z/18/Z
                Award ID: 104967/Z/14/Z
                Funded by: National Heart, Lung, and Blood Institute, DOI 10.13039/100000050;
                Award ID: HL 64541
                Funded by: National Eye Institute, DOI 10.13039/100000053;
                Funded by: National Institute of Allergy and Infectious Diseases, DOI 10.13039/100000060;
                Funded by: National Institute of Diabetes and Digestive and Kidney Diseases, DOI 10.13039/100000062;
                Funded by: Swiss Federal Government;
                Categories
                AcademicSubjects/SCI00010
                Database Issue

                Genetics
                Genetics

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