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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.
Afiliação
  • Stefancsik R; European Bioinformatics Institute (EMBL-EBI), Hinxton, Cambridgeshire, CB10 1SD, UK.
  • Balhoff JP; Renaissance Computing Institute, University of North Carolina, Chapel Hill, NC 27517, USA.
  • Balk MA; National Ecological Observatory Network, Battelle, Boulder, CO 80301, USA.
  • Ball R; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
  • Bello SM; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
  • Caron AR; European Bioinformatics Institute (EMBL-EBI), Hinxton, Cambridgeshire, CB10 1SD, UK.
  • Chessler E; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
  • de Souza V; European Bioinformatics Institute (EMBL-EBI), Hinxton, Cambridgeshire, CB10 1SD, UK.
  • Gehrke S; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, USA.
  • Haendel M; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, USA.
  • Harris LW; European Bioinformatics Institute (EMBL-EBI), Hinxton, Cambridgeshire, CB10 1SD, UK.
  • Harris NL; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA.
  • Ibrahim A; European Bioinformatics Institute (EMBL-EBI), Hinxton, Cambridgeshire, CB10 1SD, UK.
  • Koehler S; Ada Health GmbH, Berlin, Germany.
  • Matentzoglu N; Semanticly Ltd., Athens, Greece.
  • McMurry JA; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, USA.
  • Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA.
  • Munoz-Torres MC; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, USA.
  • Putman T; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, USA.
  • Robinson P; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
  • Smedley D; William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
  • Sollis E; European Bioinformatics Institute (EMBL-EBI), Hinxton, Cambridgeshire, CB10 1SD, UK.
  • Thessen AE; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, USA.
  • Vasilevsky N; Anschutz Medical Campus, University of Colorado, Aurora, CO 80045, USA.
  • Walton DO; The Jackson Laboratory, Bar Harbor, ME 04609, USA.
  • Osumi-Sutherland D; European Bioinformatics Institute (EMBL-EBI), Hinxton, Cambridgeshire, CB10 1SD, UK.
bioRxiv ; 2023 Jan 27.
Article em En | MEDLINE | ID: mdl-36747660
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.

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BioRxiv Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: BioRxiv Ano de publicação: 2023 Tipo de documento: Article