Abstract
The exposome, is a concept introduced in 2005 by Christopher P. Wild. The exposome details every exposure an individual comes into contact during their lifetime, after conception. It is possible to view the exposome as its constituent parts, for example chemical compounds, biological factors, physical phenomena and socio-economic factors. The exposome is a sibling of the genome (total number of genes) and phenome (total number of phenotypes), representing inter-connected components of human health and disease.Biomedical informatics has played a key part in advancing phenome and genome research through computational means. For example, knowledge representation tools (ontologies, vocabularies and dictionaries), text-mining methodologies and informatics frameworks. However, the exposome field, as a more recently emerging domain, has still to receive the same level of informatic methodologies and tools from biomedical informatics.
This thesis investigates the following hypothesis ‘Biomedical informatics and open data can be leveraged to fill existing methodological gaps and investigate the exposome’, to fulfil an existing knowledge gap in exposome research.
This thesis therefore details the creation of a data-driven infrastructure which integrates the relationships between the exposome, genome and phenome through investigation and development of new methodologies and solutions, which utilise open-source data.
The Phexpo Suite is a collective representation of the cumulative work of the developed methodologies presented in the thesis. The Phexpo Suite, where Phexpo is derived from ‘phenotype-exposome’, is an informatics resource that provides the ability to identify, analyse and explore the relationships between different components of the exposome (chemical compounds, physical phenomena or socio-economic factors) and phenome, through integration with the genome.
Thesis is embargoed until 31 December 2025.
| Date of Award | Dec 2023 |
|---|---|
| Original language | English |
| Awarding Institution |
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| Sponsors | Northern Ireland Department for the Economy |
| Supervisor | Guillermo Lopez Campos (Supervisor), David Simpson (Supervisor) & Barry Devereux (Supervisor) |
Keywords
- Exposome
- genome
- phenome
- biomedical informatics
- exposome informatics
- data integration
- phenotype
- computational biology/methods
- biological ontologies
- data mining