An Ontological Characterization of a Conceptual Model of the Human Genome

Alberto García Simon*, Giancarlo Guizzardi, Oscar Pastor, Veda C. Storey, Anna Bernasconi

*Corresponding author for this work

Research output: Chapter in Book/Report/Conference proceedingConference contributionAcademicpeer-review

6 Citations (Scopus)
50 Downloads (Pure)

Abstract

The ability to sequence the human genome is a scientific, historical breakthrough. Although the human genome mapping is available to all scientists, information about it can be difficult to share. The Conceptual Schema of the Human Genome represents the concepts required to holistically understand the human genome. We report on our continued efforts to ensure that the human genome can be meaningfully shared by conducting an ontological analysis and enrichment of the conceptual model to facilitate domain understanding and data exchange among heterogeneous systems. The analysis and enrichment process is supported by the ontology-driven conceptual modeling language, OntoUML, to gain ontological clarity and demonstrated on a relevant section of the Pathways view of the schema. Consistent with the overall objective of designing a sound genomics information system, the results lead to major modeling implications for the: characterization of biological entities; changes in biological entities over time; and representation of chemical compounds. Our research shows that the inclusion of a strong ontological foundation in a conceptual model contributes to the design of complex systems.
Original languageEnglish
Title of host publicationIntelligent Information Systems
Subtitle of host publicationCAiSE Forum 2022, Leuven, Belgium, June 6-10, 2022, Proceedings
EditorsJochen De Weerdt, Artem Polyvyanyy
PublisherSpringer Nature
Pages27-35
Number of pages9
ISBN (Electronic)978-3-031-07481-3
ISBN (Print)978-3-031-07480-6
DOIs
Publication statusPublished - 28 May 2022
Event34th International Conference on Advanced Information Systems Engineering, CAiSE 2022 - Leuven, Belgium
Duration: 6 Jun 202210 Jun 2022
Conference number: 34

Publication series

NameLecture Notes in Business Information Processing
PublisherSpringer
Volume452
ISSN (Print)1865-1348
ISSN (Electronic)1865-1356

Conference

Conference34th International Conference on Advanced Information Systems Engineering, CAiSE 2022
Abbreviated titleCAiSE
Country/TerritoryBelgium
CityLeuven
Period6/06/2210/06/22

Keywords

  • Ontological analysis
  • Conceptual schema of the human genome
  • Ontological foundation
  • Heterogeneous data representation
  • 2023 OA procedure

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