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Conceptual Interoperability
  and Biomedical Data


         James McCusker
  Tetherless World Constellation,
  Rensselaer Polytechnic Institute
Overview

   Conceputal, logical, and physical models
   Use cases for conceptual interoperability
   Requirements for conceptual interoperability
   Modeling caBIG (v. 1) layered semantics in
    OWL
   The Conceptual Model Ontology (CMO)
   Supporting interoperability use cases and
    requirements
Back to the
                                          Ontology Spectrum
          Thesauri                                                                     Selected
         “narrower                               Formal Frames                          Logical
                                                                                     Constraints
Catalog/   term”                                  is-a (properties)(disjointness,
ID        relation
                                                                                      inverse, …)




     Terms/                     Informal                  Formal                            General
                                                                  Value                      Logical
    glossary                       is-a                  instance
                                                                  Restrs.                 constraints



 Originally from AAAI 1999- Ontologies Panel by Gruninger, Lehmann, McGuinness, Uschold, Welty;
 – updated by McGuinness.
 Description in: www.ksl.stanford.edu/people/dlm/papers/ontologies-come-of-age-abstract.html        3
Layered Modeling

Conceptual Model:
   An expression of a domain expert's understanding
    of that domain
Logical Model:
   A representation of a set of logic, declarative or
    procedural, that defines entities, their relations, and
    their properties.
Physical Model:
   The underlying representation structure that
    actually contains the data.
Layered Modeling
                                 Examples
Conceptual Models can be:
   Cmaps, high-level UML class sketches, etc.
Logical Models can be:
   OWL Ontologies, UML diagrams, software class
    structures, etc.
Physical Model:
   Triple stores, SQL databases, noSQL databases,
    flat files, XML files, data streams, RDF files, etc.
Layers of Interoperability

Physical Interoperability:
   AKA syntactic interoperability. All the labels lign up
    properly, and the structures look the same.
Logical Interoperability:
   All data is represented in a common model.
Conceptual Interoperability:
   Models expressed in a common vocabulary,
    describing things that have a degree of similarity
    proportional to the degree of similarity of their
    conceptual models.
Goals of CI

Make similar but distinct data resources
available for search, conversion, and inter-
mapping in a way that mirrors human
understanding of the data being searched.
Make data resources that use cross-cutting
models (HL7-RIM, provenance models, etc.)
interoperable with domain-specific models
without explicit mappings between them.
The Promise of CI

Imagine being able to search across GEO,
ArrayExpress, and caArray without writing a
query for each.


Imagine being able to search for patient history
across domain-specific databases using
queries that only talk about patient history.
Use case: Search

Natural language queries with controlled
vocabularies:
   Find me all things that are nci:TissueSpecimen with
    an nci:Diagnosis of nci:Melanoma.


And do this with minimal knowledge of the
underlying logical model.


In fact, we want to be logical model-agnostic.
Use case: Conversion

We should be able to lift instance data over with
a certain level of fidelity data from one logical
model to another.


This can be between domain models, or
between a domain model and a cross-cutting
model, such as a provenance model.
Use case: Mapping

We should be able to create an automated
mapping between two logical models.


For instance, take existing caBIG data models
and align them with the BRIDG (Biomedical
Research Integrated Domain Group) model.
Conceptual Interoperability
                      Requirements
Conceptual models must:
   use a common vocabulary
   that is distinct from any particular conceptual model.
A conceptual modeling framework must:
   support natural, idiomatic expression of the actual
    data in its natural form.
   provide a way to express relationships between
    types, properties, and relations.
   provide a way of expressing additional relationships
    between concepts.
Modeling caBIG (v. 1)
       Layered Semantics in OWL
Efforts from http://bit.ly/147FwJ resulted in
additional indirection to express UML attributes:
Modeling caBIG (v. 1)
               Layered Semantics in OWL
 It would look like this if it were regular OWL:




This isn't possible in OWL 1, and doesn't work in OWL 2
if nci:Name and nci:Nucleic_Acid_Hybridization are owl:Classes.
The Conceptual Model
                    Ontology (CMO)
http://purl.org/twc/ontologies/cmo.owl
Tying classes and properties to concepts:
Why SKOS?

   Most vocabularies are already being used as
    terminologies, which SKOS is ideally suited for.
   A skos:Concept is an Individual, and therefore
    can be referenced by non-OWL predicates.
   Using SKOS eliminates accidental interference
    with logical models expressed in OWL.
   Conceptual models discuss ideas (concepts),
    not sets (classes).
   Why OWL?
      I'm happy to entertain suggestions to the contrary.
The Conceptual Model
                     Ontology (CMO)
Describing relation edges using concepts:




And qualities
of types:
The Conceptual Model
                   Ontology (CMO)
Relating conceptual models to common
vocabularies using simple composition tying
into existing SKOS heirarchies:
The Conceptual Model
                   Ontology (CMO)
Behaviors are defined in terms of what they use
and produce. This is more powerful than it
sounds. See SADI for examples.
CMO Satisfies
                           CI Requirements
✔   Common vocabularies that is distinct from any
    particular conceptual model
✔   Support natural, idiomatic expression of the
    actual data in its natural form.
✔   Not limited to caBIG models, but can be used
    on any logical model expressed in OWL.
✔   Provide a way to express relationships between
    types, properties, and relations.
✔   Provide a way of expressing additional
    relationships between concepts.
CI Use Cases: Search
Find me all things that are nci:TissueSpecimen
with an nci:Diagnosis of nci:Melanoma.
CU Use Cases: Conversion

Supported using rules like:




                     →
CU Use Cases: Conversion

Would be filled with this data:




                     →
CU Use Cases: Mapping

We can also create class relationships:




                    →

We're experimenting with this currently.
Oh, and it's working today

We've set up a RESTful service for caGrid data
and models to linked data (swBIG).
   http://swbig.googlecode.com
   Visible to linked data tools.
   The models already use CMO.
   Everything is linked, and have predictable URIs:
    caDSR Model: http://purl.org/twc/cabig/model/[project]-[version].owl
    Endpoint Model: http://purl.org/twc/cabig/endpoints/[endpoint].owl
    List Instances: http://purl.org/twc/cabig/list/[endpoint]/[pkg].[class]
    Get Instance: http://purl.org/twc/cabig/endpoints/[endpoint]/[pkg].[cls]/[id]
Conclusions

   Conceputal models can play a significant role in
    automated semantic interoperability.
   Conceptual Model Ontology can support
    important uses cases in conceptual
    interoperability.
   You can experiment with CMO-enhanced
    models and data today using swBIG.
   Not limited to caBIG models, but can be applied
    to any logical model expressed in OWL.
Thank you!

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Conceptual Interoperability and Biomedical Data

  • 1. Conceptual Interoperability and Biomedical Data James McCusker Tetherless World Constellation, Rensselaer Polytechnic Institute
  • 2. Overview  Conceputal, logical, and physical models  Use cases for conceptual interoperability  Requirements for conceptual interoperability  Modeling caBIG (v. 1) layered semantics in OWL  The Conceptual Model Ontology (CMO)  Supporting interoperability use cases and requirements
  • 3. Back to the Ontology Spectrum Thesauri Selected “narrower Formal Frames Logical Constraints Catalog/ term” is-a (properties)(disjointness, ID relation inverse, …) Terms/ Informal Formal General Value Logical glossary is-a instance Restrs. constraints Originally from AAAI 1999- Ontologies Panel by Gruninger, Lehmann, McGuinness, Uschold, Welty; – updated by McGuinness. Description in: www.ksl.stanford.edu/people/dlm/papers/ontologies-come-of-age-abstract.html 3
  • 4. Layered Modeling Conceptual Model:  An expression of a domain expert's understanding of that domain Logical Model:  A representation of a set of logic, declarative or procedural, that defines entities, their relations, and their properties. Physical Model:  The underlying representation structure that actually contains the data.
  • 5. Layered Modeling Examples Conceptual Models can be:  Cmaps, high-level UML class sketches, etc. Logical Models can be:  OWL Ontologies, UML diagrams, software class structures, etc. Physical Model:  Triple stores, SQL databases, noSQL databases, flat files, XML files, data streams, RDF files, etc.
  • 6. Layers of Interoperability Physical Interoperability:  AKA syntactic interoperability. All the labels lign up properly, and the structures look the same. Logical Interoperability:  All data is represented in a common model. Conceptual Interoperability:  Models expressed in a common vocabulary, describing things that have a degree of similarity proportional to the degree of similarity of their conceptual models.
  • 7. Goals of CI Make similar but distinct data resources available for search, conversion, and inter- mapping in a way that mirrors human understanding of the data being searched. Make data resources that use cross-cutting models (HL7-RIM, provenance models, etc.) interoperable with domain-specific models without explicit mappings between them.
  • 8. The Promise of CI Imagine being able to search across GEO, ArrayExpress, and caArray without writing a query for each. Imagine being able to search for patient history across domain-specific databases using queries that only talk about patient history.
  • 9. Use case: Search Natural language queries with controlled vocabularies:  Find me all things that are nci:TissueSpecimen with an nci:Diagnosis of nci:Melanoma. And do this with minimal knowledge of the underlying logical model. In fact, we want to be logical model-agnostic.
  • 10. Use case: Conversion We should be able to lift instance data over with a certain level of fidelity data from one logical model to another. This can be between domain models, or between a domain model and a cross-cutting model, such as a provenance model.
  • 11. Use case: Mapping We should be able to create an automated mapping between two logical models. For instance, take existing caBIG data models and align them with the BRIDG (Biomedical Research Integrated Domain Group) model.
  • 12. Conceptual Interoperability Requirements Conceptual models must:  use a common vocabulary  that is distinct from any particular conceptual model. A conceptual modeling framework must:  support natural, idiomatic expression of the actual data in its natural form.  provide a way to express relationships between types, properties, and relations.  provide a way of expressing additional relationships between concepts.
  • 13. Modeling caBIG (v. 1) Layered Semantics in OWL Efforts from http://bit.ly/147FwJ resulted in additional indirection to express UML attributes:
  • 14. Modeling caBIG (v. 1) Layered Semantics in OWL It would look like this if it were regular OWL: This isn't possible in OWL 1, and doesn't work in OWL 2 if nci:Name and nci:Nucleic_Acid_Hybridization are owl:Classes.
  • 15. The Conceptual Model Ontology (CMO) http://purl.org/twc/ontologies/cmo.owl Tying classes and properties to concepts:
  • 16. Why SKOS?  Most vocabularies are already being used as terminologies, which SKOS is ideally suited for.  A skos:Concept is an Individual, and therefore can be referenced by non-OWL predicates.  Using SKOS eliminates accidental interference with logical models expressed in OWL.  Conceptual models discuss ideas (concepts), not sets (classes).  Why OWL? I'm happy to entertain suggestions to the contrary.
  • 17. The Conceptual Model Ontology (CMO) Describing relation edges using concepts: And qualities of types:
  • 18. The Conceptual Model Ontology (CMO) Relating conceptual models to common vocabularies using simple composition tying into existing SKOS heirarchies:
  • 19. The Conceptual Model Ontology (CMO) Behaviors are defined in terms of what they use and produce. This is more powerful than it sounds. See SADI for examples.
  • 20. CMO Satisfies CI Requirements ✔ Common vocabularies that is distinct from any particular conceptual model ✔ Support natural, idiomatic expression of the actual data in its natural form. ✔ Not limited to caBIG models, but can be used on any logical model expressed in OWL. ✔ Provide a way to express relationships between types, properties, and relations. ✔ Provide a way of expressing additional relationships between concepts.
  • 21. CI Use Cases: Search Find me all things that are nci:TissueSpecimen with an nci:Diagnosis of nci:Melanoma.
  • 22. CU Use Cases: Conversion Supported using rules like: →
  • 23. CU Use Cases: Conversion Would be filled with this data: →
  • 24. CU Use Cases: Mapping We can also create class relationships: → We're experimenting with this currently.
  • 25. Oh, and it's working today We've set up a RESTful service for caGrid data and models to linked data (swBIG).  http://swbig.googlecode.com  Visible to linked data tools.  The models already use CMO.  Everything is linked, and have predictable URIs: caDSR Model: http://purl.org/twc/cabig/model/[project]-[version].owl Endpoint Model: http://purl.org/twc/cabig/endpoints/[endpoint].owl List Instances: http://purl.org/twc/cabig/list/[endpoint]/[pkg].[class] Get Instance: http://purl.org/twc/cabig/endpoints/[endpoint]/[pkg].[cls]/[id]
  • 26. Conclusions  Conceputal models can play a significant role in automated semantic interoperability.  Conceptual Model Ontology can support important uses cases in conceptual interoperability.  You can experiment with CMO-enhanced models and data today using swBIG.  Not limited to caBIG models, but can be applied to any logical model expressed in OWL.