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  <front>
    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>CoMoDID: Combining Explainable Artificial Intelligence and Conceptual Modeling for Data-Intensive Domains Management</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Oscar Pastor</string-name>
          <email>opastor@dsic.upv.es</email>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Alberto García S.</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>José Fabián Reyes Román</string-name>
          <email>jreyes@pros.upv.es</email>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Diana Martínez Minguet</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Mireia Costa</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Ana León</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Ferrán Pla</string-name>
          <email>fpla@dsic.upv.es</email>
          <xref ref-type="aff" rid="aff0">0</xref>
          <xref ref-type="aff" rid="aff1">1</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>ER2025: Companion Proceedings of the 44th International Conference on Conceptual Modeling: Industrial Track, ER Forum</institution>
          ,
          <addr-line>8th SCME, Doctoral Consortium, Tutorials</addr-line>
          ,
          <institution>Project Exhibitions</institution>
          ,
          <addr-line>Posters and Demos</addr-line>
        </aff>
        <aff id="aff1">
          <label>1</label>
          <institution>Valencian Research Institute for Artificial Intelligence (VRAIN). Universitat Politècnica de València</institution>
          ,
          <addr-line>Camí de Vera S/N, Valencia, 46022</addr-line>
          ,
          <country country="ES">Spain</country>
        </aff>
      </contrib-group>
      <pub-date>
        <year>2025</year>
      </pub-date>
      <abstract>
        <p>The large and heterogeneous data sets that characterize Data-Intensive Domains (DID) pose a challenge to developing data analysis and management approaches. A successful and eficient data-knowledge extraction from DID-based systems is determined by assembling and analyzing such data sets, but integrating their diferent sources is arduous work. Finding sound solutions for this problem has become a relevant research goal, as existing DID-based systems are not solving it convincingly. To solve this problem, a conceptual characterization of the data sets that constitute DID-based systems is essential. Using foundational ontologies and conceptual modeling provides an adequate strategy to face the complexity of this problem by clarifying the data structure that is to be analyzed and managed. In this project, we tackle this principle by defining a method grounded on a conceptual model to develop eficient DID-based systems and using a well-grounded combination of Explainable Artificial Intelligence (XAI) and Machine Learning (ML) techniques to perform data analytics. In addition, the characterization of a platform for implementing the method has been designed and developed. The project's chosen application domain is genomics, specifically in predicting critical diseases before symptoms manifest. Using XAI and ML with genomic information can contribute to the advancement of precision medicine, allowing the prediction of future diseases based on the available genomic data. The ML dimension covers the predictive knowledge (is a disease present in a patient?), while the XAI dimension deals with the explainable part (why does the patient have a disease?).</p>
      </abstract>
      <kwd-group>
        <kwd>eol&gt;Data-Intensive Domains</kwd>
        <kwd>Conceptual Modeling</kwd>
        <kwd>Explainable Artificial Intelligence</kwd>
        <kwd>Precision Medicine</kwd>
      </kwd-group>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>1. Introduction</title>
      <p>
        Data has become an invaluable asset in today’s society, and its production is unparalleled, continuously
increasing. This presents significant challenges for modern software platforms that must store, analyze,
and quickly provide access to data for numerous users. Consequently, various research fields related
to data management and processing have undergone profound transformations [
        <xref ref-type="bibr" rid="ref1">1</xref>
        ]. One of the most
current and relevant challenges in the software development context is dealing with DID-based systems,
which require extensive and heterogeneous datasets [
        <xref ref-type="bibr" rid="ref2">2</xref>
        ] to create knowledge from data. Software
developers must integrate complex, distributed, and heterogeneous datasets from increasingly diverse
data-generating technologies (e.g., sensors, the Internet, genome sequencing machines, and other
sophisticated devices) to develop efective and eficient methods and facilities for data analysis and
management. Therefore, managing this massive amount of data to find the most critical and actionable
pieces of knowledge has become a significant challenge.
      </p>
      <p>
        A fascinating example of DID-based systems is those that analyze the human genome [
        <xref ref-type="bibr" rid="ref3">3</xref>
        ].
Understanding the human genome is a significant scientific challenge, requiring the application of sound
conceptual modeling techniques to manage such complex systems adequately. The continuous
generation of genomic data from improved sequencing technologies [
        <xref ref-type="bibr" rid="ref4 ref5 ref6">4, 5, 6</xref>
        ] necessitates selecting the right
data management strategy for software platforms. Developing software systems to deal with these DID
is key for a proper genome analysis that would anticipate future illness in the human population [
        <xref ref-type="bibr" rid="ref7">7</xref>
        ].
      </p>
      <p>
        To address these issues, this proposal is grounded on an interdisciplinary scientific policy, especially
interested in combining two strong lines of research: conceptual modeling (CM) [
        <xref ref-type="bibr" rid="ref8">8</xref>
        ] and explainable
artificial intelligence (XAI) [
        <xref ref-type="bibr" rid="ref9">9</xref>
        ]. To this aim, two main components are explored, designed, and developed:
i) A method to deal with DIDs problem’s management (the methodological perspective) correctly and
eficiently, and ii) a “materialization” of the method in the form of a platform intended to assess the
solution’s value in a challenging and specially selected DID as the one related to the understanding of
the human genome (the practical perspective).
      </p>
      <p>
        In this scenario, applying a methodological framework based on XAI and CM to address DIDs
concerns efectively becomes a relevant, promising strategy that forms the basis of the scientific
approach used to achieve the project’s primary goal. On the one hand, CM is recognized as crucial for
developing data-oriented computer systems, ensuring an accurate representation of the application
domain independently of the system that will be designed to address a real-world problem. This is
especially relevant when we want to “understand data” in a DID context, which in our case applies
to genomics. On the other hand, there is the application of XAI principles [
        <xref ref-type="bibr" rid="ref10 ref9">9, 10</xref>
        ], which describe
a system in which humans can easily understand the results that an AI system provides, focusing
primarily on understanding exactly “how” and “why” decisions are taken to reach results [
        <xref ref-type="bibr" rid="ref11">11, 12</xref>
        ]. For
DID-based systems, where the proper representation of concepts becomes a crucial step, CM becomes
the perfect partner for a practical XAI application [
        <xref ref-type="bibr" rid="ref9">9</xref>
        ] since by visualizing the relevant concepts, the
structure of meaning people use to understand the domain is clearly represented. Our approach
both methodological (a method) and practical (a platform for the genomics domain)- is based on the
group’s expertise [
        <xref ref-type="bibr" rid="ref11">13, 11</xref>
        ], focusing on understanding data’s true nature, employing CM techniques,
and addressing challenges such as data volume and processing.
      </p>
      <sec id="sec-1-1">
        <title>1.1. Details of the Project</title>
        <p>The project combines XAI and CM for Data-Intensive Domains Management (CoMoDID). It is a
four-year project (Sept. 2022 – Dec. 2025). Currently, the Research team is constituted by Óscar
Pastor López, Juan Carlos Casamayor Ródenas, Tanja E. Vos, and Lluís-F. Hurtado, Encarna Segarra,
Ferran Pla, Fernando García Granada, José F. Reyes Román (Postdoctoral Researcher), Alberto García
Simón (Postdoctoral Researcher), Mireia Costa (Postdoctoral Researcher), and Diana Martínez Minguet
(Predoctoral Researcher), in collaboration with the Genomics Team of the PROS research group. The
Generalitat Valenciana supports the project through the CIPROM/2021/023 project.</p>
      </sec>
    </sec>
    <sec id="sec-2">
      <title>2. Project Goals, Tangible Outputs &amp; Expected Outcomes</title>
      <p>The research proposed in this project focuses on the design of solutions for DID problems, as existing
frameworks to build DID-based systems lack a solid conceptual modeling foundation and are built too
frequently as ad hoc implementations. Both the method and the platform to materialize the solution, to
show how it works for a selected DID, conform to the two primary objectives of this project:
• Definition of a general method (i.e., DELFOS) applicable to any DID for facing its analysis and
design, which is based on a sound combination of conceptual modeling techniques and XAI
technologies.
• Development of a technological platform that will instantiate and support the method in a
particularly challenging and complex DID context: the genomic domain.</p>
      <p>To address the methodological and practical components of the approach, we break these objectives
into specific goals (G) with associated work packages (WPs), from which the tangible outputs obtained
so far result.</p>
      <sec id="sec-2-1">
        <title>2.1. Specific Goals for a General Method</title>
        <sec id="sec-2-1-1">
          <title>The two specific goals to achieve our objective are:</title>
          <p>G1 Ontological characterization of DIDs: This project achieved significant progress in the
ontological characterization of Data-Intensive Domains. A complete and functional first version
(metamodel) has been consolidated [14], which has been validated through two primary use cases:
the modeling and specification of Clinical Management Systems (CMS) [ 15], and the analysis of
genomic data associated with nuclear medicine and radiopharmacy [16].</p>
          <p>Besides, we established a Framework for Ontology Conceptualization (F4OC) [17], which serves
as a comprehensive set of best practices for ontological analysis of complex domains associated
with DID platforms. This framework is supported by a meta-ontology focused on FAIR principles
(Findable, Accessible, Interoperable, Reusable) [18].</p>
          <p>The project also adapted foundational ontologies, such as UFO, to address CoMoDID’s specific
challenges through international collaborations with leading experts in ontological engineering
[19] and conceptual modeling [20]. These eforts resulted in a modular proposal with precise
ontological support for combining conceptual modeling and genomic data [21], facilitating proper
integration of DIDs from diverse data sources. This approach has been evaluated with satisfactory
results [22].</p>
          <p>Most recent developments have focused on extending and consolidating the ontology framework,
with particular emphasis on genomic data conceptual modeling [23] and DNA variant classification
[24]. Relevant patterns for genomic data analysis have been identified and formalized [ 25],
enabling the ontology to cover more specific and complex use cases within data-intensive domains.
The ontological framework has been further presented to the scientific community and validated
through the organization of the OntoCom workshop at JOWO 2024 [26] and culminated in a
doctoral thesis [17] providing a comprehensive framework for ontological characterization with
specific applications in cybersecurity domains, addressing crucial security and privacy aspects of
DIDs.</p>
          <p>G2 Integration of XAI techniques for data management and exploitation: This objective has
been successfully completed through a comprehensive approach that progressed from initial
comparative studies to the full development and validation of the DELFOS method.
Initial eforts focused on the genomic domain as a major DID, conducting statistical comparisons
of diferent data sources with information associated with cancer and heart disease [ 27, 28, 29].
These initial studies established the basis for understanding data completeness and concordance
challenges in genomic domains, leading to the development of XAI techniques to replicate clinical
criteria for genomic data analysis and reduce manual expert activities.</p>
          <p>Significant progress was achieved through international collaborations, resulting in the
development of novel data management solutions. A Data Warehouse approach was implemented
for genomic data extraction, integration, and storage, providing technological support for the
DELFOS module, which is responsible for information storage and traceability throughout the
analysis process. This development extended previous work on the Hermes platform for genomic
data extraction, transformation, and integration [30]. The Conceptual Model of the Genome
structure supported all of these scientific developments to ensure information quality through
proper ontological support.</p>
          <p>Throughout the CoMoDID project, the DELFOS method has undergone continuous improvement
and validation, allowing its successful application to precision medicine scenarios [31]. The
method’s efectiveness has been demonstrated through its application to early-onset Alzheimer’s
disease, validating its utility in identifying relevant variants in genomic information systems [32].
This validation represents a significant milestone in consolidating the methodological foundation
and proving its practical applicability in concrete clinical scenarios.</p>
          <p>Furthermore, the method’s applicability has been extended to complex diseases, with particular
focus on Polygenic Risk Scores and their translation to clinical practice through the DELFOS
method [33]. This extension demonstrates the method’s versatility and adaptability to diferent
precision medicine contexts, completing the integration of XAI techniques for comprehensive
data management and exploitation in DIDs.</p>
        </sec>
      </sec>
      <sec id="sec-2-2">
        <title>2.2. Specific Goals for a Technological Platform</title>
        <p>The instantiation of the method in the Genomics domain aims to validate that the method can be applied
to complex DIDs, to provide a technological platform to collect, manage, and analyze the generated
data in practical settings to improve the understanding of the human genome challenge, and ultimately
to obtain relevant value by the extraction of knowledge from the data. To achieve these objectives, the
following goals are defined:
G3 Definition of the interaction mechanisms for DID-based systems : This objective has been
successfully accomplished through a comprehensive approach that evolved from initial interaction
requirements analysis to the complete implementation of model-to-code transformations for
DID-based systems.</p>
        <p>Our initial work established the analysis of interaction requirements for DID-based systems and
the elicitation of requirements for designing sustainable interfaces. This initial phase focused on
developing comprehensive approaches for the conceptual modeling of genomic data and
humancentered design principles for eficient management of smart genomic information, providing the
theoretical and practical groundwork for defining interaction mechanisms.</p>
        <p>We achieved significant progress by integrating the designed interaction model into a
modeldriven development method using an agile approach. This integration allowed us to reuse
technologies developed by the research center to progress from interaction and business
requirements to code generation [34]. This work incorporated an assistant for improving model
comprehensibility [35]. This work also designed a method for integrating privacy and data
protection requirements into user interfaces and the system in general [36].</p>
        <p>The transformation mechanisms between abstract and concrete interaction models were
successfully integrated into previously designed methods and technologies. The proposed design
transforms business strategy and goal models (including sustainability considerations) through
business process models, followed by information systems and interaction modeling that are
processed to generate system code. This integrated approach has been validated in diferent
iterations, starting from business strategy and goal levels [37], with particular attention to
associating interaction models with requirements of other organizational actors through a proposed
modeling method that includes a taxonomy of organizational actor types [38].</p>
        <p>The completion of this objective was marked by significant advances in model-to-code
transformations, as reported in the results of two doctoral theses providing complementary methodological
frameworks: one focused on usability requirements capture [39] and another establishing a
comprehensive model-driven software production method [40]. Applying Design Science principles
[41] has provided the foundations for correct model-to-code transformation through an integral
model-driven software production method that considers everything from strategy to code.
International collaboration has supported the development of these tools and methods through
various undergraduate projects focused on business process model to class diagram
transformations, class diagram to microservice code transformations, organizational modeling tools,
information system tools, and business process model comprehensibility studies.</p>
        <p>Advances in model-to-model transformations have complemented the work [42], demonstrating
the viability of transforming models from one formal notation to another, and theoretical
contributions on integrating fast and slow thinking in software development. Practical applicability
has been demonstrated through systematic interpretation of variants [43, 25], completing the full
spectrum of interaction mechanisms for DID-based systems.</p>
        <p>G4 Development of a platform to support the DELFOS method: This objective has been
successfully accomplished through the development of a platform composed of a suite of specialized
tools for supporting the DELFOS method, addressing the complete workflow from data extraction
to knowledge exploitation in genomic domains.</p>
        <p>An initial work established comprehensive studies of medical literature repositories and analysis
of information retrieval systems. Deep Learning models using Transformers were developed for
multiclass and multilabel classification of medical radiology reports through Transfer Learning
techniques using clinical and biomedical corpora.</p>
        <p>Then, we systematically curated and analyzed biomedical scientific articles, identifying common
clustering patterns and interaction relationships. Key clusters identified include chromosomal
elements associated with diseases, diseases and their symptoms, chemical molecules and
medications, and genetic variations. Critical interaction patterns were established between diseases and
chemical molecules, genetic variations and diseases, and chromosomal elements and variations.
As a result of this work, we developed tools for automated extraction of gene-disease
relationships from scientific literature [ 44], supported by specific methodologies for pattern detection
in genomic information [45]. These tools were practically validated in familial cardiopathies,
generating knowledge graphs connecting genes and associated diseases [46]. A semantics-based
search engine was developed to address the fragmentation and heterogeneity of genomic
information across diverse data sources, demonstrating significant improvements in search precision
compared to traditional keyword-based methods, particularly validated in retina-macula diseases.
This suite of tools, integrated under the DELFOS platform [47], incorporates automated literature
extraction capabilities, biological entity detection, and interaction analysis. Delfos includes
a genomic database designed for storing and managing analyzed information, implemented
following FAIR principles. Advanced exploitation modules were developed, including automatic
genetic variation interpretation tools validated in hereditary retinal dystrophies, predictive
systems for identifying genomic hotspots, and tools for genetic variant calling.</p>
        <p>The platform architecture was implemented using modern microservices design, providing
lfexibility, scalability, and maintainability. Our tool has demonstrated versatility across diferent
clinical domains, including integration with an information system for managing Neuroblastoma
treatment data and its extension to complex diseases such as mental disorders [33, 48].
G5 DELFOS method and platform validation: This objective has been completed through a
validation process that progressed from initial requirements identification to extensive real-world
testing across multiple domains, demonstrating the robustness and adaptability of the DELFOS
method and platform.</p>
        <p>The validation process began with systematically identifying testing requirements for DID
applications through collaborative meetings with domain experts. Initial validation was conducted
through practical case studies of the DELFOS platform across diferent diseases [ 49]. Requirements
analysis was extended to incorporate strategy and objectives analysis, ensuring compatibility
with TestStar (Test*) technology [37].</p>
        <p>Then, we designed a testing strategy for DID applications, addressing their unique characteristics.
As a use case, it is focused on the genomic domain. The approach was based on automatic
generation of multiple test cases using TestStar (Test*) technology, which was successfully
integrated within a model-driven development method for agile software development contexts
[37] and evaluated in real industrial settings [50].</p>
        <p>The testing strategy underwent significant refinement, involving multiple working sessions with
precision medicine professionals. This process resulted in diverse scientific outcomes, including
research on polygenic risk score analysis [33], studies on how to apply DELFOS for dermatology,
and oncology applications through collaborations with the Valencian Institute of Oncology (IVO).
Finally, new testing techniques were developed to improve interface and report quality [51].
We demonstrated the method’s applicability and efectiveness in a practical case study focused on
early-onset Alzheimer’s disease, followed by evaluations across multiple biological domains [32].
Successful validation was achieved in polygenic risk score optimization for complex diseases,
including mental disorders such as autism and depression [33]. The method demonstrated its
potential in managing, integrating, and analyzing clinical data and medical images using advanced
AI and Machine Learning techniques in dermatology.</p>
        <p>The validation scope extended beyond healthcare to demonstrate DELFOS’s adaptability across
diferent DID domains. Applications included software development for video games [ 52] and
European projects measuring how music impacts people [53].</p>
      </sec>
    </sec>
    <sec id="sec-3">
      <title>3. Relevance for ER</title>
      <p>The proposed project is aligned with several research topics relevant to the conceptual modeling
community. It is highly relevant to the issues of Ontological and cognitive foundations and Semantics
in conceptual modeling since the incorporation of foundational ontologies and conceptual modeling in
the project contributes to a solid theoretical foundation concerning DID-based systems, in combination
with the project’s focus on developing standardized approaches for data integration and analysis, which
involves addressing semantic aspects. On the same line, the project is relevant to the topic of complexity
management of large conceptual models, given that the project addresses the challenge of managing
large and heterogeneous data sets in complex DID-based systems.</p>
      <p>In another direction, the project aims to develop a method and platform to automate the development
of DID-based systems, including data modeling. In this context, using Artificial Intelligence helps
optimize and automate data analysis. However, in the Precision Medicine field, where the practical
instantiation of the project is embedded, transparency and minimization of uncertainties are essential
for the resulting decisions to be explainable. XAI satisfies these requirements, thus being suitable for
data analysis counseling. The use of XAI and ML techniques involves knowledge representation and
reasoning for accurate data analysis, which is directly related to logic-based knowledge representation
and reasoning.</p>
      <p>Overall, the proposed project’s alignment with various research topics highlights its relevance and
potential contributions to conceptual modeling, as well as knowledge representation and reasoning in
the context of DIDs. It aims to address existing challenges and improve the eficiency and accuracy
of DID-based systems, ofering valuable insights for data analysts in diverse research fields based on
conceptual modeling techniques and foundational ontologies.</p>
    </sec>
    <sec id="sec-4">
      <title>4. Current Project Status</title>
      <p>The project is approaching its completion, ending in the next four months. It has successfully achieved
all primary objectives and progressed significantly, delivering comprehensive results across all work
packages.</p>
      <p>All primary objectives have been successfully completed: the ontological characterization of DIDs
(G1) has been finalized with international validation through workshops and doctoral theses. The
DELFOS method (G2) has been fully developed, validated, and applied to real clinical scenarios, including
early-onset Alzheimer’s disease and complex diseases. Interaction mechanisms for DID-based systems
(G3) have been implemented with complete model-to-code transformations. A comprehensive set
of tools and platforms (G4) has resulted in the fully functional DELFOS platform. Finally, extensive
validation (G5) has been conducted across multiple domains. We can conclude that the DELFOS platform
has demonstrated its versatility through several successful implementations.</p>
      <p>Current activities focus on generating final documentation, knowledge transfer, and consolidation of
results for broader scientific dissemination.</p>
    </sec>
    <sec id="sec-5">
      <title>Acknowledgments</title>
      <p>We thank IIS-La Fe, INCLIVA, ISABIAL, Hospital Universitario Doctor Peset, and BIONOS for their
massive contribution to this project and willingness to help. This work was supported by the Generalitat
Valenciana through the CoMoDiD project (CIPROM/2021/023).</p>
      <sec id="sec-5-1">
        <title>Declaration on Generative AI</title>
        <p>During the preparation of this work, the author(s) used Grammarly in order to: Grammar and spelling
check and reword. After using this tool/service, the author(s) reviewed and edited the content as needed
and take(s) full responsibility for the publication’s content.
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