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The Tetherless World
                    Constellation


 Representing Microarray
Experiment Metadata Using
   Provenance Models
Jim McCusker and Deborah L. McGuinness
     Tetherless World Constellation,
     Rensselaer Polytechnic Institute
            http://tw.rpi.edu
Observation

• experimental metadata (n):
   The information about an experiment that
   describes it in sufficient detail for someone to
   understand and reproduce the experiment.
• provenance in science (n):
   The information about an experiment that
   describes it in sufficient detail for someone to
   understand and reproduce the experiment.
Experimental
 metadata
     is
provenance.
Examples: Provenance
   Representations




            All of these are
          representations of
             provenance.
Examples: Provenance
          Representations
• Computational
  Workflows




                    All of these are
                  representations of
                     provenance.
Examples: Provenance
          Representations
• Computational
  Workflows
• Experimental
  Workflows




                    All of these are
                  representations of
                     provenance.
Examples: Provenance
          Representations
• Computational
  Workflows
• Experimental
  Workflows
• Biospecimen
  Management


                    All of these are
                  representations of
                     provenance.
Examples: Provenance
          Representations
• Computational
  Workflows
• Experimental
  Workflows
• Biospecimen
  Management
• Data Sources,
  Ownership &
  Attribution       All of these are
                  representations of
                     provenance.
Hypothesis
• If experimental metadata is provenance:
 • Then a good model of provenance can be
   used to encode experimental metadata as
   well as a domain-specific metadata.
 • Then a general model of provenance can
   model the entirety of experimental metadata.
• We try to evaluate this by mapping
  microarray metadata onto provenance
  graphs.
Why a generic
provenance model?
An Integrated View of Provenance
An Integrated View of Provenance
Transformation


Normalization


    Scan


Hybridization

   Labeled                 Cell
                 Extract
   Extract                 Line
An Integrated View of Provenance
Transformation


Normalization


    Scan


Hybridization

   Labeled                 Cell
                 Extract          Section   Biopsy   Participant
   Extract                 Line
An Integrated View of Provenance
Transformation


Normalization

                                                      Clinical
    Scan                                             Diagnosis


Hybridization

   Labeled                 Cell
                 Extract          Section   Biopsy   Participant
   Extract                 Line
An Integrated View of Provenance
Transformation


Normalization

                                                      Clinical
    Scan                                             Diagnosis


Hybridization                                         DOB


   Labeled                 Cell
                 Extract          Section   Biopsy   Participant
   Extract                 Line
An Integrated View of Provenance
Transformation


Normalization

                                  Histology             Clinical
    Scan                           Image               Diagnosis


Hybridization                      Slide                DOB


   Labeled                 Cell
                 Extract          Section     Biopsy   Participant
   Extract                 Line
An Integrated View of Provenance
Transformation
                                               Lab
                                                Lab
                                                 Lab
                                                  Lab
                                              Results
                                              Results
Normalization                                  Results
                                                Results

                                  Histology                Clinical
    Scan                           Image                  Diagnosis


                                                Blood
Hybridization                      Slide                   DOB
                                               Sample

   Labeled                 Cell
                 Extract          Section      Biopsy     Participant
   Extract                 Line
An Integrated View of Provenance
Transformation
                                               Lab
                                                Lab          Adverse
                                                             Adverse
                                                 Lab
                                                  Lab         Adverse
                                                               Adverse
                                              Results
                                              Results        Events
                                                              Events
Normalization                                  Results
                                                Results        Events
                                                               Events

                                  Histology                Clinical
    Scan                           Image                  Diagnosis


                                                Blood
Hybridization                      Slide                   DOB
                                               Sample

   Labeled                 Cell
                 Extract          Section      Biopsy     Participant
   Extract                 Line
An Integrated View of Provenance
Transformation
                                                Lab
                                                 Lab          Adverse
                                                              Adverse
                                                  Lab
                                                   Lab         Adverse
                                                                Adverse
                                               Results
                                               Results        Events
                                                               Events
Normalization                                   Results
                                                 Results        Events
                                                                Events

                                   Histology                Clinical
    Scan                            Image                  Diagnosis


                                                 Blood
Hybridization                       Slide                   DOB
                                                Sample

   Labeled                 Cell
                 Extract           Section      Biopsy     Participant
   Extract                 Line
                                  Biopsy Event Date
Related Work, ABC Soup
•MAGE (MicroArray and Gene Expression
 Object Model
•MAGE-TAB: Tab-delimited spreadsheet of
 MAGE.
  •IDF (Investigation Design Format)
  •SDRF (Sample and Data Relationship Format)
•MGED (Microarray Gene Expression
  Data)Ontology and MGED Society
•OPM (Open Provenance Model)
•PML (Proof Markup Language)
General Models of Provenance:
  Open Provenance Model
General Models of Provenance:
   Proof Markup Language
Methods Overview
MAGE-TAB      MAGE-TAB
  IDF           SDRF
Methods Overview
MAGE-TAB              MAGE-TAB
  IDF                   SDRF

    Used(IDF)   Used(SDRF)

MAGE-TAB
   to
MAGE-RDF
    WasGeneratedBy(RDF)



MAGE-RDF
Methods Overview
MAGE-TAB              MAGE-TAB
  IDF                   SDRF

    Used(IDF)   Used(SDRF)

MAGE-TAB
   to            mageprov.rules
MAGE-RDF
                                           mageprovenance.owl
                             Used(Rules)
    WasGeneratedBy(RDF)


                             Jena Rule      Used(OWL)
MAGE-RDF         Used(RDF)    Engine
Methods Overview
MAGE-TAB              MAGE-TAB
  IDF                   SDRF
                                            PML & OPM
    Used(IDF)   Used(SDRF)
                                            WasGeneratedBy(RDF)
MAGE-TAB
   to            mageprov.rules
MAGE-RDF
                                           mageprovenance.owl
                             Used(Rules)
    WasGeneratedBy(RDF)


                             Jena Rule      Used(OWL)
MAGE-RDF         Used(RDF)    Engine
MAGE-TAB 2 MAGE-RDF:
    an RDF Version of MAGE
• Used Limpopo to parse MAGE-TAB
• Big thanks to HCLS SIG for input
• (Small) issues with MGED Ontology:
  • Missing ProtocolApplication, some key
    properties.
  • Cannot perform inferencing without ignoring
    owl:someValuesFrom.
     • Contains 234 owl:Classes with
       193 owl:someValuesFrom restrictions.
     • Should be using integrity constraint instead.
• http://magetab2rdf.googlecode.com
Methods: MAGE-RDF to Open
        Provenance Model
• 16 rules in Jena     Example Rule:
  Inference Language   [opm.generated.sample:
                          (?exp rdf:type mged:Experiment),

• 15 subClass             (?exp mage:has_protocol_application ?pa),
                          makeTemp(?gen),

  mappings                (?pa mged:has_protocol ?protocol),
                          (?pa mage:has_derivative ?sample)
                       ->
• 10 individuals          (?gen rdf:type opm:WasGeneratedBy),
                          (?gen opm:cause ?protocol),
  (Roles)                 (?gen opm:account ?exp),
                          (?gen opm:effect ?sample),
                          (?sample rdf:type opm:Artifact)
• 2 subProperty        ]

  mappings
Methods: MAGE-RDF to Proof
        Markup Language
• 4 rules in Jena   Example Rule:
  Inference         [pml.protocolApplication:
                      (?pa rdf:type mage:ProtocolApplication),

  Language            (?pa mage:has_derivation_source ?derivation),
                      (?pa mged:has_protocol ?protocol),
                      (?pa mage:has_derivative ?derived),

• 14 subClass
                      (?pa mged:has_protocol ?protocol),
                      (?derivedNodeSet pmlj:hasConclusion ?derived),
                      (?derivationNodeSet pmlj:hasConclusion ?derivation),

  mappings          ->
                      makeTemp(?antecedentList)

                      (?pa rdf:type pmlj:InferenceStep),

• 2 subProperty       (?pa pmlj:hasInferenceRule ?protocol),
                      (?pa pmlj:hasIndex 1),

  mappings
                      (?derivedNodeSet pmlj:isConsequentOf ?pa),
                      (?pa pmlj:hasAntecedentList ?antecedentList),
                      (?antecedentList rdf:type pmlj:NodeSetList),
                      (?antecedentList ds:first ?derivationNodeSet)
                    ]
Evaluation: Declarative Mapping

Pros:                     Cons:
• Easy to understand.     • “Unclean”
• Easy to validate.         representations.
• Little programming      • More difficult to
  involved.                 debug.
• Many languages.         • Many languages.
• Easy integration with   • Logic programming
  existing ontologies.      not everyone's
                            cup of tea.
• Powerful rule
  languages available.
Evaluation:
Expressiveness & Coverage
Evaluation:
    Expressiveness & Coverage
Missing in OPM:
• See below.
Evaluation:
    Expressiveness & Coverage
Missing in OPM:   Missing in PML:
• See below.      • Parameters
                  • Parameter Values
                    (could have been
                    variable mappings)
Evaluation:
    Expressiveness & Coverage
Missing in OPM:    Missing in PML:
• See below.       • Parameters
                   • Parameter Values
Could have added     (could have been
to OPM and PML:      variable mappings)
• Publications
• Time
• Comments
Evaluation:
     Expressiveness & Coverage
Missing in OPM:        Missing in PML:
• See below.           • Parameters
                       • Parameter Values
Could have added         (could have been
to OPM and PML:          variable mappings)
• Publications       MAGE comments are
• Time           structured name-value pairs.
• Comments          These would have to be
                     represented as PML
                Information and OPM Artifacts.
Evaluation:
PML Visualization
Evaluation:
PML Visualization
Evaluation:
OPM Visualization
Evaluation:
OPM Visualization
Future Work

• Integration with:
 • Tissue management tools
 • Clinical data sources
 • Workflow engines (Taverna already
   exports OPM)
• Use case-based evaluation of
  sufficiency.
Conclusions
• Experimental metadata is provenance.
• All experimental provenance can benefit
  from a common model.
• MAGE-provenance means 9,975 assays
  ready for conversion to a common model.
• OPM provides slightly better modeling
  coverage and workflow integration.
• PML provides better reasoning coverage
  and theorem prover integration.
Acknowledgements
               and References
• Tetherless World (Deborah McGuinness et al.)
• Krauthammer Lab (Michael Krauthammer et al.)
• W3C Health Care and Life Sciences SIG.
• LIMPOPO: limpopo.sourceforge.net
• MAGE-TAB: magetab.sourceforge.net
• MGED Society: www.mged.org
• PML: www.inference-web.org
• OPM: www.openprovenance.org
• Jiao Tao, Li Ding, Deborah L. McGuinness, Instance Data
  Evaluation for Semantic Web-Based Knowledge Management
  Systems, 42th Hawaii International Conference on System
  Sciences (HICSS-42), January 2009.

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Representing Microarray Experiment Metadata Using Provenance Models

  • 1. The Tetherless World Constellation Representing Microarray Experiment Metadata Using Provenance Models Jim McCusker and Deborah L. McGuinness Tetherless World Constellation, Rensselaer Polytechnic Institute http://tw.rpi.edu
  • 2. Observation • experimental metadata (n): The information about an experiment that describes it in sufficient detail for someone to understand and reproduce the experiment. • provenance in science (n): The information about an experiment that describes it in sufficient detail for someone to understand and reproduce the experiment.
  • 3. Experimental metadata is provenance.
  • 4. Examples: Provenance Representations All of these are representations of provenance.
  • 5. Examples: Provenance Representations • Computational Workflows All of these are representations of provenance.
  • 6. Examples: Provenance Representations • Computational Workflows • Experimental Workflows All of these are representations of provenance.
  • 7. Examples: Provenance Representations • Computational Workflows • Experimental Workflows • Biospecimen Management All of these are representations of provenance.
  • 8. Examples: Provenance Representations • Computational Workflows • Experimental Workflows • Biospecimen Management • Data Sources, Ownership & Attribution All of these are representations of provenance.
  • 9. Hypothesis • If experimental metadata is provenance: • Then a good model of provenance can be used to encode experimental metadata as well as a domain-specific metadata. • Then a general model of provenance can model the entirety of experimental metadata. • We try to evaluate this by mapping microarray metadata onto provenance graphs.
  • 11. An Integrated View of Provenance
  • 12. An Integrated View of Provenance Transformation Normalization Scan Hybridization Labeled Cell Extract Extract Line
  • 13. An Integrated View of Provenance Transformation Normalization Scan Hybridization Labeled Cell Extract Section Biopsy Participant Extract Line
  • 14. An Integrated View of Provenance Transformation Normalization Clinical Scan Diagnosis Hybridization Labeled Cell Extract Section Biopsy Participant Extract Line
  • 15. An Integrated View of Provenance Transformation Normalization Clinical Scan Diagnosis Hybridization DOB Labeled Cell Extract Section Biopsy Participant Extract Line
  • 16. An Integrated View of Provenance Transformation Normalization Histology Clinical Scan Image Diagnosis Hybridization Slide DOB Labeled Cell Extract Section Biopsy Participant Extract Line
  • 17. An Integrated View of Provenance Transformation Lab Lab Lab Lab Results Results Normalization Results Results Histology Clinical Scan Image Diagnosis Blood Hybridization Slide DOB Sample Labeled Cell Extract Section Biopsy Participant Extract Line
  • 18. An Integrated View of Provenance Transformation Lab Lab Adverse Adverse Lab Lab Adverse Adverse Results Results Events Events Normalization Results Results Events Events Histology Clinical Scan Image Diagnosis Blood Hybridization Slide DOB Sample Labeled Cell Extract Section Biopsy Participant Extract Line
  • 19. An Integrated View of Provenance Transformation Lab Lab Adverse Adverse Lab Lab Adverse Adverse Results Results Events Events Normalization Results Results Events Events Histology Clinical Scan Image Diagnosis Blood Hybridization Slide DOB Sample Labeled Cell Extract Section Biopsy Participant Extract Line Biopsy Event Date
  • 20. Related Work, ABC Soup •MAGE (MicroArray and Gene Expression Object Model •MAGE-TAB: Tab-delimited spreadsheet of MAGE. •IDF (Investigation Design Format) •SDRF (Sample and Data Relationship Format) •MGED (Microarray Gene Expression Data)Ontology and MGED Society •OPM (Open Provenance Model) •PML (Proof Markup Language)
  • 21. General Models of Provenance: Open Provenance Model
  • 22. General Models of Provenance: Proof Markup Language
  • 23. Methods Overview MAGE-TAB MAGE-TAB IDF SDRF
  • 24. Methods Overview MAGE-TAB MAGE-TAB IDF SDRF Used(IDF) Used(SDRF) MAGE-TAB to MAGE-RDF WasGeneratedBy(RDF) MAGE-RDF
  • 25. Methods Overview MAGE-TAB MAGE-TAB IDF SDRF Used(IDF) Used(SDRF) MAGE-TAB to mageprov.rules MAGE-RDF mageprovenance.owl Used(Rules) WasGeneratedBy(RDF) Jena Rule Used(OWL) MAGE-RDF Used(RDF) Engine
  • 26. Methods Overview MAGE-TAB MAGE-TAB IDF SDRF PML & OPM Used(IDF) Used(SDRF) WasGeneratedBy(RDF) MAGE-TAB to mageprov.rules MAGE-RDF mageprovenance.owl Used(Rules) WasGeneratedBy(RDF) Jena Rule Used(OWL) MAGE-RDF Used(RDF) Engine
  • 27. MAGE-TAB 2 MAGE-RDF: an RDF Version of MAGE • Used Limpopo to parse MAGE-TAB • Big thanks to HCLS SIG for input • (Small) issues with MGED Ontology: • Missing ProtocolApplication, some key properties. • Cannot perform inferencing without ignoring owl:someValuesFrom. • Contains 234 owl:Classes with 193 owl:someValuesFrom restrictions. • Should be using integrity constraint instead. • http://magetab2rdf.googlecode.com
  • 28. Methods: MAGE-RDF to Open Provenance Model • 16 rules in Jena Example Rule: Inference Language [opm.generated.sample: (?exp rdf:type mged:Experiment), • 15 subClass (?exp mage:has_protocol_application ?pa), makeTemp(?gen), mappings (?pa mged:has_protocol ?protocol), (?pa mage:has_derivative ?sample) -> • 10 individuals (?gen rdf:type opm:WasGeneratedBy), (?gen opm:cause ?protocol), (Roles) (?gen opm:account ?exp), (?gen opm:effect ?sample), (?sample rdf:type opm:Artifact) • 2 subProperty ] mappings
  • 29. Methods: MAGE-RDF to Proof Markup Language • 4 rules in Jena Example Rule: Inference [pml.protocolApplication: (?pa rdf:type mage:ProtocolApplication), Language (?pa mage:has_derivation_source ?derivation), (?pa mged:has_protocol ?protocol), (?pa mage:has_derivative ?derived), • 14 subClass (?pa mged:has_protocol ?protocol), (?derivedNodeSet pmlj:hasConclusion ?derived), (?derivationNodeSet pmlj:hasConclusion ?derivation), mappings -> makeTemp(?antecedentList) (?pa rdf:type pmlj:InferenceStep), • 2 subProperty (?pa pmlj:hasInferenceRule ?protocol), (?pa pmlj:hasIndex 1), mappings (?derivedNodeSet pmlj:isConsequentOf ?pa), (?pa pmlj:hasAntecedentList ?antecedentList), (?antecedentList rdf:type pmlj:NodeSetList), (?antecedentList ds:first ?derivationNodeSet) ]
  • 30. Evaluation: Declarative Mapping Pros: Cons: • Easy to understand. • “Unclean” • Easy to validate. representations. • Little programming • More difficult to involved. debug. • Many languages. • Many languages. • Easy integration with • Logic programming existing ontologies. not everyone's cup of tea. • Powerful rule languages available.
  • 32. Evaluation: Expressiveness & Coverage Missing in OPM: • See below.
  • 33. Evaluation: Expressiveness & Coverage Missing in OPM: Missing in PML: • See below. • Parameters • Parameter Values (could have been variable mappings)
  • 34. Evaluation: Expressiveness & Coverage Missing in OPM: Missing in PML: • See below. • Parameters • Parameter Values Could have added (could have been to OPM and PML: variable mappings) • Publications • Time • Comments
  • 35. Evaluation: Expressiveness & Coverage Missing in OPM: Missing in PML: • See below. • Parameters • Parameter Values Could have added (could have been to OPM and PML: variable mappings) • Publications MAGE comments are • Time structured name-value pairs. • Comments These would have to be represented as PML Information and OPM Artifacts.
  • 40. Future Work • Integration with: • Tissue management tools • Clinical data sources • Workflow engines (Taverna already exports OPM) • Use case-based evaluation of sufficiency.
  • 41. Conclusions • Experimental metadata is provenance. • All experimental provenance can benefit from a common model. • MAGE-provenance means 9,975 assays ready for conversion to a common model. • OPM provides slightly better modeling coverage and workflow integration. • PML provides better reasoning coverage and theorem prover integration.
  • 42. Acknowledgements and References • Tetherless World (Deborah McGuinness et al.) • Krauthammer Lab (Michael Krauthammer et al.) • W3C Health Care and Life Sciences SIG. • LIMPOPO: limpopo.sourceforge.net • MAGE-TAB: magetab.sourceforge.net • MGED Society: www.mged.org • PML: www.inference-web.org • OPM: www.openprovenance.org • Jiao Tao, Li Ding, Deborah L. McGuinness, Instance Data Evaluation for Semantic Web-Based Knowledge Management Systems, 42th Hawaii International Conference on System Sciences (HICSS-42), January 2009.

Notas do Editor