Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

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BioTop: A Domain Top Level Ontology for the Life Sciences Dagstuhl Seminar 08131 - Ontologies and Text Mining for Life Sciences: Current Status and Future Perspectives Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

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BioTop : A Domain Top Level Ontology for the Life Sciences Dagstuhl Seminar 08131 - Ontologies and Text Mining for Life Sciences: Current Status and Future Perspectives. Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany. Ontological Layers. Upper - PowerPoint PPT Presentation

Transcript of Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Page 1: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

BioTop: A Domain Top Level Ontology for the Life Sciences

Dagstuhl Seminar 08131 - Ontologies and Text Mining for Life Sciences: Current Status and Future Perspectives

Stefan Schulz

Medical Informatics

Research Group

UniversityMedical Center

Freiburg, Germany

Page 2: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Upper

Ontology /

Top Ontology

Domain Ontology

Ontological Layers

Page 3: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Upper

Ontology /

Top Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

Ontological Layers

Page 4: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Upper

Ontology /

Top Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

• Transcription • DNA-dependent transcription

• antisense RNA transcription• mRNA transcription• rRNA transcription• tRNA transcription • …(from Gene Ontology)

Ontological Layers

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Upper

Ontology /

Top Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

DOLCE

BFO

Ontological Layers

GFO

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Upper

Ontology /

Top Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

DOLCE

BFO

Ontological Layers•Entity• Continuant• Dependent Continuant• Realizable Entity• Function• Role• Independent Continuant • Object• Object Aggregate• Occurrent (from BFO)

GFO

Page 7: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Upper

Ontology /

Top Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

DOLCE

BFO

Ontological Layers

GFO

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Domain Upper

Ontology /

Top Domain Ontology

Upper

Ontology /

Top Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

DOLCE

BFO

Ontological Layers

GFO

Page 9: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Upper

Ontology /

Top Ontology

Domain Upper

Ontology /

Top Domain Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

DOLCE

BFO

Ontological Layers

GFO

Page 10: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Upper

Ontology /

Top Ontology

Domain Upper

Ontology /

Top Domain Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

DOLCE

BFO

• Organism• Body Part• Cell• Cell Component• Tissue• Protein• Nucleic Acid• DNA• RNA• Biological Function• Biological Process• Taxon

Ontological Layers

GFO

Page 11: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Upper

Ontology /

Top Ontology

Domain Upper

Ontology /

Top Domain Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

Simple Bio Upper Ontology

GFO-Bio

DOLCE

BFO

GENIA

Ontological Layers

GFO

Page 12: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Upper

Ontology /

Top Ontology

Domain Upper

Ontology /

Top Domain Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

Simple Bio Upper Ontology

GFO-Bio

GENIA

DOLCE

BFO

BioTop

Ontological Layers

GFO

Page 13: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

BioTop Principles

Formal Ontology, using logics for domain representation

Fill the gap between domain-independent upper-level ontologies and specific biomedical domain ontologies

Taxonomy of most general entity types for the Life Sciences

Textual and formal definitions Use Semantic Web standards: OWL-DL, Pellet,

Protégé Link to Ontology standards: OBO relation ontology

Page 14: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Classes and Relations

Page 15: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

• Classes defined by necessary and sufficient conditions• Rationales

- Precise understanding of meaning- Empowering the classifier for automated validation

processes

Necessary conditions of class ‘Nucleotide’

Nucleotide

Ribose

BasePhosphate

Full Definitions

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BioTop: Metrics

Page 17: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Biological Process ↔ Biological ProcessGene Ontology

Protein Function ↔ Molecular FunctionGene Ontology

Cell Component ↔ Cellular ComponentGene Ontology

Cell ↔ CellCell Ontology and CellFMA

Atom ↔ AtomsChEBI

Organic Compound ↔ Organic Molecular EntitiesChEBI

Structured Biological

Entity ↔ Anatomical StructureFMA

Tissue ↔ TissueFMA

DNA, RNA ↔ DNASequence Ontology, RNASequence

Protein ↔ ProteinSequence Ontology

BioTop OBO Ontologies

Ontology Integration

Upper Level

Ontology

↔BFO

(DOLCE)

OBO RO

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Upper

Ontology /

Top Ontology

Domain Upper

Ontology /

Top Domain Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

DOLCE

BFO

BioTop

Ontological Layers

GFO

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Upper

Ontology /

Top Ontology

Domain Ontology

OBO (GO, SO, ChEBI, …)

DOLCE

BFO

Ontological Layers

GFO Domain Upper

Ontology /

Top Domain Ontology BioTop

Page 20: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

Current State

BioTop: work in progress !

Modularization: Making it as neutral as possible wrt upper level

assumptions: compatible with both BFO and DOLCE

Carving out specialized biochemistry classes

BioTop site:http://purl.org/biotop

BioTop BioTopBioChem

Top

Page 21: Stefan Schulz Medical Informatics Research Group University Medical Center Freiburg, Germany

BioTop related publications

Stefan Schulz, Martin Boeker,Holger Stenzhorn. The Ontology of Biological Taxa. Accepted for ISMB 2008

Stefan Schulz, Martin Boeker, Holger Stenzhorn. How Granularity Issues Concern Biomedical Ontology Integration. Accepted for Medical Informatics Europe (MIE 2008)

Udo Hahn, Elena Beisswanger, Holger Stenzhorn, Stefan Schulz. BIOTOP: An Upper Domain Ontology for Life Sciences. A Description of its Current Structure, Contents, and Interfaces to OBO Ontologies. Forthcoming in: Applied Ontologies, 2008

Holger Stenzhorn, Stefan Schulz, Elena Beisswanger. Towards a Top-Domain Ontology for Linking Biomedical Ontologies. 12th World Congress on Health (Medical) Informatics (Medinfo 2007), Brisbane, Australia, August 2007

Stefan Schulz, Elena Beisswanger, Udo Hahn, Joachim Wermter, Holger Stenzhorn, Anand Kumar. From GENIA to BioTop - Towards a top-level Ontology for Biology. International Conference on Formal Ontology in Information Systems (FOIS 2006), Baltimore, USA, November 2006

Stefan Schulz, Elena Beisswanger, Joachim Wermter, Udo Hahn. Towards an Upper Level Ontology for Molecular Biology. American Medical Informatics Association Annual Conference (AMIA 2006), Washington, November 2006