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The anatomy of phenotype ontologies: principles, properties and applications

The past decade has seen an explosion in the collection of genotype data in domains as diverse as medicine, ecology, livestock and plant breeding. Along with this comes the challenge of dealing with the related phenotype data, which is not only large but also highly multidimensional. Computational a...

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Autores principales: Gkoutos, Georgios V, Schofield, Paul N, Hoehndorf, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169674/
https://www.ncbi.nlm.nih.gov/pubmed/28387809
http://dx.doi.org/10.1093/bib/bbx035
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author Gkoutos, Georgios V
Schofield, Paul N
Hoehndorf, Robert
author_facet Gkoutos, Georgios V
Schofield, Paul N
Hoehndorf, Robert
author_sort Gkoutos, Georgios V
collection PubMed
description The past decade has seen an explosion in the collection of genotype data in domains as diverse as medicine, ecology, livestock and plant breeding. Along with this comes the challenge of dealing with the related phenotype data, which is not only large but also highly multidimensional. Computational analysis of phenotypes has therefore become critical for our ability to understand the biological meaning of genomic data in the biological sciences. At the heart of computational phenotype analysis are the phenotype ontologies. A large number of these ontologies have been developed across many domains, and we are now at a point where the knowledge captured in the structure of these ontologies can be used for the integration and analysis of large interrelated data sets. The Phenotype And Trait Ontology framework provides a method for formal definitions of phenotypes and associated data sets and has proved to be key to our ability to develop methods for the integration and analysis of phenotype data. Here, we describe the development and products of the ontological approach to phenotype capture, the formal content of phenotype ontologies and how their content can be used computationally.
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spelling pubmed-61696742018-10-10 The anatomy of phenotype ontologies: principles, properties and applications Gkoutos, Georgios V Schofield, Paul N Hoehndorf, Robert Brief Bioinform Paper The past decade has seen an explosion in the collection of genotype data in domains as diverse as medicine, ecology, livestock and plant breeding. Along with this comes the challenge of dealing with the related phenotype data, which is not only large but also highly multidimensional. Computational analysis of phenotypes has therefore become critical for our ability to understand the biological meaning of genomic data in the biological sciences. At the heart of computational phenotype analysis are the phenotype ontologies. A large number of these ontologies have been developed across many domains, and we are now at a point where the knowledge captured in the structure of these ontologies can be used for the integration and analysis of large interrelated data sets. The Phenotype And Trait Ontology framework provides a method for formal definitions of phenotypes and associated data sets and has proved to be key to our ability to develop methods for the integration and analysis of phenotype data. Here, we describe the development and products of the ontological approach to phenotype capture, the formal content of phenotype ontologies and how their content can be used computationally. Oxford University Press 2017-04-06 /pmc/articles/PMC6169674/ /pubmed/28387809 http://dx.doi.org/10.1093/bib/bbx035 Text en © The Author 2017. Published by Oxford University Press. http://creativecommons.org/licenses/by/4.0/ 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.
spellingShingle Paper
Gkoutos, Georgios V
Schofield, Paul N
Hoehndorf, Robert
The anatomy of phenotype ontologies: principles, properties and applications
title The anatomy of phenotype ontologies: principles, properties and applications
title_full The anatomy of phenotype ontologies: principles, properties and applications
title_fullStr The anatomy of phenotype ontologies: principles, properties and applications
title_full_unstemmed The anatomy of phenotype ontologies: principles, properties and applications
title_short The anatomy of phenotype ontologies: principles, properties and applications
title_sort anatomy of phenotype ontologies: principles, properties and applications
topic Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169674/
https://www.ncbi.nlm.nih.gov/pubmed/28387809
http://dx.doi.org/10.1093/bib/bbx035
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