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The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences

Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for the annotation of genome-wide association studies...

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Autores principales: Stefancsik, Ray, Balhoff, James P., Balk, Meghan A., Ball, Robyn, Bello, Susan M., Caron, Anita R., Chessler, Elissa, de Souza, Vinicius, Gehrke, Sarah, Haendel, Melissa, Harris, Laura W., Harris, Nomi L., Ibrahim, Arwa, Koehler, Sebastian, Matentzoglu, Nicolas, McMurry, Julie A., Mungall, Christopher J., Munoz-Torres, Monica C., Putman, Tim, Robinson, Peter, Smedley, Damian, Sollis, Elliot, Thessen, Anne E, Vasilevsky, Nicole, Walton, David O., Osumi-Sutherland, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900877/
https://www.ncbi.nlm.nih.gov/pubmed/36747660
http://dx.doi.org/10.1101/2023.01.26.525742
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author Stefancsik, Ray
Balhoff, James P.
Balk, Meghan A.
Ball, Robyn
Bello, Susan M.
Caron, Anita R.
Chessler, Elissa
de Souza, Vinicius
Gehrke, Sarah
Haendel, Melissa
Harris, Laura W.
Harris, Nomi L.
Ibrahim, Arwa
Koehler, Sebastian
Matentzoglu, Nicolas
McMurry, Julie A.
Mungall, Christopher J.
Munoz-Torres, Monica C.
Putman, Tim
Robinson, Peter
Smedley, Damian
Sollis, Elliot
Thessen, Anne E
Vasilevsky, Nicole
Walton, David O.
Osumi-Sutherland, David
author_facet Stefancsik, Ray
Balhoff, James P.
Balk, Meghan A.
Ball, Robyn
Bello, Susan M.
Caron, Anita R.
Chessler, Elissa
de Souza, Vinicius
Gehrke, Sarah
Haendel, Melissa
Harris, Laura W.
Harris, Nomi L.
Ibrahim, Arwa
Koehler, Sebastian
Matentzoglu, Nicolas
McMurry, Julie A.
Mungall, Christopher J.
Munoz-Torres, Monica C.
Putman, Tim
Robinson, Peter
Smedley, Damian
Sollis, Elliot
Thessen, Anne E
Vasilevsky, Nicole
Walton, David O.
Osumi-Sutherland, David
author_sort Stefancsik, Ray
collection PubMed
description Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for the annotation of genome-wide association studies (GWAS), Quantitative Trait Loci (QTL) mappings or any population-focused measurable trait data. Moreover, variations in gene expression in response to environmental disturbances even without any genetic alterations can also be associated with particular biological attributes. The integration of trait and biological attribute information with an ever increasing body of chemical, environmental and biological data greatly facilitates computational analyses and it is also highly relevant to biomedical and clinical applications. The Ontology of Biological Attributes (OBA) is a formalised, species-independent collection of interoperable phenotypic trait categories that is intended to fulfil a data integration role. OBA is a standardised representational framework for observable attributes that are characteristics of biological entities, organisms, or parts of organisms. OBA has a modular design which provides several benefits for users and data integrators, including an automated and meaningful classification of trait terms computed on the basis of logical inferences drawn from domain-specific ontologies for cells, anatomical and other relevant entities. The logical axioms in OBA also provide a previously missing bridge that can computationally link Mendelian phenotypes with GWAS and quantitative traits. The term components in OBA provide semantic links and enable knowledge and data integration across specialised research community boundaries, thereby breaking silos.
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spelling pubmed-99008772023-02-07 The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences Stefancsik, Ray Balhoff, James P. Balk, Meghan A. Ball, Robyn Bello, Susan M. Caron, Anita R. Chessler, Elissa de Souza, Vinicius Gehrke, Sarah Haendel, Melissa Harris, Laura W. Harris, Nomi L. Ibrahim, Arwa Koehler, Sebastian Matentzoglu, Nicolas McMurry, Julie A. Mungall, Christopher J. Munoz-Torres, Monica C. Putman, Tim Robinson, Peter Smedley, Damian Sollis, Elliot Thessen, Anne E Vasilevsky, Nicole Walton, David O. Osumi-Sutherland, David bioRxiv Article Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation to a wild-type or other reference. However, these do not include the phenotypic trait or attribute categories required for the annotation of genome-wide association studies (GWAS), Quantitative Trait Loci (QTL) mappings or any population-focused measurable trait data. Moreover, variations in gene expression in response to environmental disturbances even without any genetic alterations can also be associated with particular biological attributes. The integration of trait and biological attribute information with an ever increasing body of chemical, environmental and biological data greatly facilitates computational analyses and it is also highly relevant to biomedical and clinical applications. The Ontology of Biological Attributes (OBA) is a formalised, species-independent collection of interoperable phenotypic trait categories that is intended to fulfil a data integration role. OBA is a standardised representational framework for observable attributes that are characteristics of biological entities, organisms, or parts of organisms. OBA has a modular design which provides several benefits for users and data integrators, including an automated and meaningful classification of trait terms computed on the basis of logical inferences drawn from domain-specific ontologies for cells, anatomical and other relevant entities. The logical axioms in OBA also provide a previously missing bridge that can computationally link Mendelian phenotypes with GWAS and quantitative traits. The term components in OBA provide semantic links and enable knowledge and data integration across specialised research community boundaries, thereby breaking silos. Cold Spring Harbor Laboratory 2023-01-27 /pmc/articles/PMC9900877/ /pubmed/36747660 http://dx.doi.org/10.1101/2023.01.26.525742 Text en https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by/4.0/) , which allows reusers to distribute, remix, adapt, and build upon the material in any medium or format, so long as attribution is given to the creator. The license allows for commercial use.
spellingShingle Article
Stefancsik, Ray
Balhoff, James P.
Balk, Meghan A.
Ball, Robyn
Bello, Susan M.
Caron, Anita R.
Chessler, Elissa
de Souza, Vinicius
Gehrke, Sarah
Haendel, Melissa
Harris, Laura W.
Harris, Nomi L.
Ibrahim, Arwa
Koehler, Sebastian
Matentzoglu, Nicolas
McMurry, Julie A.
Mungall, Christopher J.
Munoz-Torres, Monica C.
Putman, Tim
Robinson, Peter
Smedley, Damian
Sollis, Elliot
Thessen, Anne E
Vasilevsky, Nicole
Walton, David O.
Osumi-Sutherland, David
The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences
title The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences
title_full The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences
title_fullStr The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences
title_full_unstemmed The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences
title_short The Ontology of Biological Attributes (OBA) - Computational Traits for the Life Sciences
title_sort ontology of biological attributes (oba) - computational traits for the life sciences
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9900877/
https://www.ncbi.nlm.nih.gov/pubmed/36747660
http://dx.doi.org/10.1101/2023.01.26.525742
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