An Ontological Characterization of a Conceptual Model of the Human Genome

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

doi:10.1007/978-3-031-07481-3_4

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

Semantics, Cybersecurity & Services

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › Academic › peer-review

8 Citations (Scopus)

251 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 language	English
Title of host publication	Intelligent Information Systems
Subtitle of host publication	CAiSE Forum 2022, Leuven, Belgium, June 6-10, 2022, Proceedings
Editors	Jochen De Weerdt, Artem Polyvyanyy
Publisher	Springer
Pages	27-35
Number of pages	9
ISBN (Electronic)	978-3-031-07481-3
ISBN (Print)	978-3-031-07480-6
DOIs	https://doi.org/10.1007/978-3-031-07481-3_4
Publication status	Published - 28 May 2022
Event	34th International Conference on Advanced Information Systems Engineering, CAiSE 2022 - Leuven, Belgium Duration: 6 Jun 2022 → 10 Jun 2022 Conference number: 34

Publication series

Name	Lecture Notes in Business Information Processing
Publisher	Springer
Volume	452
ISSN (Print)	1865-1348
ISSN (Electronic)	1865-1356

Conference

Conference	34th International Conference on Advanced Information Systems Engineering, CAiSE 2022
Abbreviated title	CAiSE
Country/Territory	Belgium
City	Leuven
Period	6/06/22 → 10/06/22

Keywords

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

Access to Document

10.1007/978-3-031-07481-3_4

ArticleAccepted author version, 281 KB
ArticleFinal published version, 196 KBLicence: Taverne

Cite this

García Simon, A., Guizzardi, G., Pastor, O., Storey, V. C., & Bernasconi, A. (2022). An Ontological Characterization of a Conceptual Model of the Human Genome. In J. D. Weerdt, & A. Polyvyanyy (Eds.), Intelligent Information Systems : CAiSE Forum 2022, Leuven, Belgium, June 6-10, 2022, Proceedings (pp. 27-35). (Lecture Notes in Business Information Processing; Vol. 452). Springer. https://doi.org/10.1007/978-3-031-07481-3_4

@inproceedings{13770141a7d74e0dbffb7286f798c737,

title = "An Ontological Characterization of a Conceptual Model of the Human Genome",

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.",

keywords = "Ontological analysis, Conceptual schema of the human genome, Ontological foundation, Heterogeneous data representation, 2023 OA procedure",

author = "\{Garc{\'i}a Simon\}, Alberto and Giancarlo Guizzardi and Oscar Pastor and Storey, \{Veda C.\} and Anna Bernasconi",

year = "2022",

month = may,

day = "28",

doi = "10.1007/978-3-031-07481-3\_4",

language = "English",

isbn = "978-3-031-07480-6",

series = "Lecture Notes in Business Information Processing",

publisher = "Springer",

pages = "27--35",

editor = "Weerdt, \{Jochen De\} and Artem Polyvyanyy",

booktitle = "Intelligent Information Systems",

address = "Germany",

note = "34th International Conference on Advanced Information Systems Engineering, CAiSE 2022, CAiSE ; Conference date: 06-06-2022 Through 10-06-2022",

}

García Simon, A, Guizzardi, G, Pastor, O, Storey, VC & Bernasconi, A 2022, An Ontological Characterization of a Conceptual Model of the Human Genome. in JD Weerdt & A Polyvyanyy (eds), Intelligent Information Systems : CAiSE Forum 2022, Leuven, Belgium, June 6-10, 2022, Proceedings. Lecture Notes in Business Information Processing, vol. 452, Springer, pp. 27-35, 34th International Conference on Advanced Information Systems Engineering, CAiSE 2022, Leuven, Belgium, 6/06/22. https://doi.org/10.1007/978-3-031-07481-3_4

An Ontological Characterization of a Conceptual Model of the Human Genome. / García Simon, Alberto; Guizzardi, Giancarlo; Pastor, Oscar et al.
Intelligent Information Systems : CAiSE Forum 2022, Leuven, Belgium, June 6-10, 2022, Proceedings. ed. / Jochen De Weerdt; Artem Polyvyanyy. Springer, 2022. p. 27-35 (Lecture Notes in Business Information Processing; Vol. 452).

Research output: Chapter in Book/Report/Conference proceeding › Conference contribution › Academic › peer-review

TY - GEN

T1 - An Ontological Characterization of a Conceptual Model of the Human Genome

AU - García Simon, Alberto

AU - Guizzardi, Giancarlo

AU - Pastor, Oscar

AU - Storey, Veda C.

AU - Bernasconi, Anna

N1 - Conference code: 34

PY - 2022/5/28

Y1 - 2022/5/28

N2 - 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.

AB - 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.

KW - Ontological analysis

KW - Conceptual schema of the human genome

KW - Ontological foundation

KW - Heterogeneous data representation

KW - 2023 OA procedure

U2 - 10.1007/978-3-031-07481-3_4

DO - 10.1007/978-3-031-07481-3_4

M3 - Conference contribution

SN - 978-3-031-07480-6

T3 - Lecture Notes in Business Information Processing

SP - 27

EP - 35

BT - Intelligent Information Systems

A2 - Weerdt, Jochen De

A2 - Polyvyanyy, Artem

PB - Springer

T2 - 34th International Conference on Advanced Information Systems Engineering, CAiSE 2022

Y2 - 6 June 2022 through 10 June 2022

ER -

García Simon A, Guizzardi G, Pastor O, Storey VC, Bernasconi A. An Ontological Characterization of a Conceptual Model of the Human Genome. In Weerdt JD, Polyvyanyy A, editors, Intelligent Information Systems : CAiSE Forum 2022, Leuven, Belgium, June 6-10, 2022, Proceedings. Springer. 2022. p. 27-35. (Lecture Notes in Business Information Processing). doi: 10.1007/978-3-031-07481-3_4

An Ontological Characterization of a Conceptual Model of the Human Genome

Abstract

Publication series

Conference

Keywords

Access to Document

Fingerprint

Cite this