Human phenotypes define the healthy or diseased status of an individual and they arise from the complex interactions between environmental and genetic factors. The whole set of human exposures constitute the human exposome. These exposures have multiple sources including physical and socioeconomic factors. In this manuscript we have used text mining techniques to retrieve 1295 and 1903 Human Phenotype Ontology terms associated with these exposome factors and we have subsequently mapped 83% and 90% of the HPO terms respectively) into SNOMED as a clinically actionable code. We have developed a proof-of-concept approach to facilitate the integration of exposomic and clinical data.
|Title of host publication||Proceedings of MIE 2023: Caring is Sharing – Exploiting the Value in Data for Health and Innovation|
|Number of pages||2|
|Publication status||Published - 18 May 2023|
|Event||The 33rd Medical Informatics Europe Conference, MIE2023 - Gothenburg, Sweden|
Duration: 22 May 2023 → 25 May 2023
|Name||Studies in Health Technology and Informatics|
|Conference||The 33rd Medical Informatics Europe Conference, MIE2023|
|Period||22/05/2023 → 25/05/2023|
- Systematized Nomenclature of Medicine
- Human Phenotype Ontology
- precision medicine
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Investigation and development of novel exposome informatics methodologies and solutions for the analysis and integration of phenome, genome and exposome dataAuthor: Hawthorne, C., Dec 2023
Student thesis: Doctoral Thesis › Doctor of Philosophy