1. The anatomy of phenotype ontologies: principles, properties and applications
- Author
-
Paul N. Schofield, Robert Hoehndorf, Georgios V. Gkoutos, Schofield, Paul [0000-0002-5111-7263], and Apollo - University of Cambridge Repository
- Subjects
0301 basic medicine ,Paper ,PATO ,Computer science ,phenotype ,Ecology (disciplines) ,Ontology (information science) ,computer.software_genre ,ComputingMethodologies_ARTIFICIALINTELLIGENCE ,03 medical and health sciences ,0302 clinical medicine ,Animals ,Humans ,ontology ,Molecular Biology ,Semantic Web ,data integration ,Structure (mathematical logic) ,Information retrieval ,Ecology ,Computational Biology ,Biological Ontologies ,Biodiversity ,Data science ,Phenotype ,Biological Evolution ,030104 developmental biology ,ComputingMethodologies_PATTERNRECOGNITION ,Gene Ontology ,Animals, Domestic ,Trait ,computer ,030217 neurology & neurosurgery ,Information Systems ,Data integration - Abstract
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.
- Published
- 2017