stefan schulz holger stenzhorn martin boeker the ontology of biological taxa university medical...
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![Page 1: Stefan Schulz Holger Stenzhorn Martin Boeker The Ontology of Biological Taxa University Medical Center Freiburg (Germany) Institute of Medical Biometry](https://reader037.vdocuments.mx/reader037/viewer/2022102818/56649ead5503460f94bb3b6f/html5/thumbnails/1.jpg)
Stefan SchulzHolger StenzhornMartin Boeker
The Ontology of Biological Taxa
University Medical Center Freiburg (Germany)Institute of Medical Biometry and Medical Informatics
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Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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Biological Taxa: Definition
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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Biological Taxa: Definition
• Taxa (singular taxon): Hierarchically structured labels or ranks used for biological classification
• Taxa can be attributed to organisms, populations, tissues, cells, cell components, and biological macromolecules
• Most biological discourse is related to some taxa
• Clarification taxa vs. species
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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Examples for Taxa
Taxon (Rank)
Chimpanzee Asian Elephant Drosophila
Kingdom Animalia Animalia Animalia Phylum Chordata Chordata Arthropoda Subphylum Vertebrata Vertebrata Class Mammalia Mammalia Insecta Order Primates Proboscidea Diptera Superfamily Elephantoidea Family Hominides Elephantidae Drosophilidae Subfamily Drosophilinae Genus Pan Elephas Drosophila Species Simia
troglodytes Elephas maximus Drosophila
melanogaster
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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Taxa and biomedial vocabularies
• MeSH: 3,497 entries• Catalogue of Life: 1.75 M species by 2011• NCBI taxonomy: 500,000 entries• UNIPROT: 17,467 entries• SNOMED CT: 27,400 entries• OBO: 30 out of 66 ontologies are taxon-specific• Nonspecific OBO ontologies:
– GO : “spore wall assembly (sensu Fungi)““male tail morphogenesis (sensu Nematoda)”
– CL: “non-visual cell (sensu Vertebrata)”“chemotactic amoeboid cell (sensu Mycetozoa)”
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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• No agreement on proper definition of the term “species” and its ontological status
• 22 different conceptualizations of species• Popular: „group of organisms that can interbreed and
produce fertile offspring (Mayr, 1969) “• Theoretical sound, difficult to apply, not generally
valid • Our approach: biological taxa need to be accounted
for in biomedical ontologies, let alone whether they exist in nature or are merely (fiat) attributions by biologists
The difficult concept of Species
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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Domain (Particulars)
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
Basic stipulations on ontologies
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Basic stipulations on ontologies
HominidOntology (Types)
Domain (Particulars)
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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Basic stipulations on ontologies
Hominid
Is_a
Orangutan
Is_a
Gorilla
Washoe
Instance_of
Is_a
Chimpanzee
Domain (Particulars)
Ontology (Types)
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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Is_a Is_a
GorillaOranguta
n
Is_a
Washoe
Instance_of
Domain (Particulars)
Ontology (Types)
Primate
Is_a
Hominid
Chimpanzee
Basic stipulations on ontologies
Subtype (subclass) relation Is_a:
Is_a (A, B) =def x: (instance_of (x, A) instance_of (x, B))
Type
Particular
Class
Instantiation
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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How to represent biological taxa?
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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How to represent biological taxa?1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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Washoe
World (Particulars)
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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Is_a Is_a
GorillaOranguta
n
Is_a
Washoe
Instance_of
World (Particulars)
Ontology (Types)
Primate
Is_a
Hominid
Chimpanzee
Is_a Is_a
Order Species
Is_a
Meta-Ontology (Meta-Properties)
Taxon
Family
Instance_of
Instance_of
Instance_of
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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How to represent biological taxa?1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation [1] 2 3 4 5 Conclusion
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How to represent biological taxa?1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation 1 [2] 3 4 5 Conclusion
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Is_a Is_a
GorillaOranguta
n
Is_a
Washoe
Instance_of
World (Particulars)
Ontology (Types)
Primate
Is_a
Hominid
Chimpanzee
Is_a Is_a
Order Species
Is_a
Meta-Ontology (Meta-Properties)
Taxon
Family
Instance_of
Instance_of
Instance_of
Definition Ontologies Representation 1 [2] 3 4 5 Conclusion
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Is_a Is_a
GorillaOranguta
n
Is_a
Washoe
Instance_of
World (Particulars)
Ontology (Types)
Primate
Is_a
Hominid
Chimpanzee
Is_a Is_a
Order Species
Is_a
Family
Is_a Is_a
Definition Ontologies Representation 1 [2] 3 4 5 Conclusion
Taxon
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How to represent biological taxa?1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation 1 [2] 3 4 5 Conclusion
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How to represent biological taxa?1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation 1 2 [3] 4 5 Conclusion
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World (Particulars)
Chimpanzee
Class of
Chimpanzees
Is_a Is_a
Order Species
Is_a
Taxon
Family
ChimpanzeePopulation
Definition Ontologies Representation 1 2 [3] 4 5 Conclusion
Has_granular_part
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chimp2chimp1
World (Particulars)
Chimpanzee
Class of
Chimpanzees
Is_a Is_a
Order Species
Is_a
Taxon
Family
ChimpanzeePopulation
Definition Ontologies Representation 1 2 [3] 4 5 Conclusion
Has_granular_part
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HominidPopulation
Hominid_maxChimp_max
World (Particulars)
ChimpanzeePopulation
Is_a Is_a
Order Species
Is_a
Taxon
Family
Is_aChimpanzee
Is_a
Class of
Chimpanzees
Definition Ontologies Representation 1 2 [3] 4 5 Conclusion
Has_granular_part
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How to represent biological taxa?1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation 1 2 [3] 4 5 Conclusion
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How to represent biological taxa?1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation 1 2 3 [4] 5 Conclusion
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Qualities in Upper Ontologies
• BFO : “A dependent continuant that is exhibited if it
inheres in an entity or categorical property. Examples: the
color of a tomato, the ambient temperature of air, the
circumference shape of a nose, the mass of a piece of
gold, the weight of a chimpanzee”
• DOLCE : “…the basic entities we can perceive or
measure: shapes, colors, sizes, sounds, smells, as well
as weights, lengths, electric charges”
• The relation inheres_in links qualities to their bearers
Definition Ontologies Representation 1 2 3 [4] 5 Conclusion
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Hela Cell
Definition Ontologies Representation 1 2 3 [4] 5 Conclusion
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Is_a
Taxon_Quality
Kingdom_Animalia_Quality
Phylum_Chordata_Quality
Class_MammaliaQuality
Order_PrimataeQuality
Family_HominidesQuality
Species_Simia T.Quality
Is_a
Is_a
Is_a
Is_a
Is_a
Is_a
World (Particulars)
q1q2 q4q3
Species Homo S.Quality
Hela Cell
q7 q6 q5
??
Definition Ontologies Representation 1 2 3 [4] 5 Conclusion Quality
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How to represent biological taxa?1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation 1 2 3 [4] 5 Conclusion
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How to represent biological taxa?1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
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Definition Ontologies Representation 1 2 3 4 [5] Conclusion
q1q2
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Order Quality
Family Quality
Species Quality
Taxon Quality
Is_a
Is_a
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
q1q2
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Order Quality
Family Quality
Species Quality
Taxon QualityPrimatae Region
Hominides Region
Simia T. Region
Is_a
Is_a
Has-location some
Part-of
Part-of
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
q1q2
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Order Quality
Family Quality
Species Quality
Taxon QualityPrimatae Region
Hominides Region
Simia T. Region
Is_a
Is_a
Is_a Is_a
OrderRegion
SpeciesRegion
Is_a
TaxonRegion
FamilyRegion
Has-location some
Part-of
Part-of
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
q1q2
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How to represent biological taxa?1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
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Preferred Representations
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
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Preferred Representations1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
![Page 41: Stefan Schulz Holger Stenzhorn Martin Boeker The Ontology of Biological Taxa University Medical Center Freiburg (Germany) Institute of Medical Biometry](https://reader037.vdocuments.mx/reader037/viewer/2022102818/56649ead5503460f94bb3b6f/html5/thumbnails/41.jpg)
Preferred Representations1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
![Page 42: Stefan Schulz Holger Stenzhorn Martin Boeker The Ontology of Biological Taxa University Medical Center Freiburg (Germany) Institute of Medical Biometry](https://reader037.vdocuments.mx/reader037/viewer/2022102818/56649ead5503460f94bb3b6f/html5/thumbnails/42.jpg)
Preferred Representations1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
“BFO”
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
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Preferred Representations1. Meta-Properties
+ Intuitive- Instances of instances cannot be expressed
by common representational formalisms (OWL, OBO)2. Supertypes:
+ Intuitive- Unintended inferences
3. Population instances+ Allows instantiation of abstract nodes (taxon, species, family…)- Requires A-Box extension (not expressible in OBO), - Only representation of organisms.
4. Qualities+ Flexible and intuitive- No place for abstract nodes
5. Qualia + Abstract nodes can be represented as quality regions- Complex representation
“DOLCE”
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
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Definition Ontologies Representation 1 2 3 4 [5] Conclusion
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Summary
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
• Favored representation: Taxa are qualities• Two flavors:
– Subtype hierarchies of qualities – Inclusion hierarchies of quality regions
• Compatible with OBO / OWL-DL• Qualities can inhere in populations, organisms,
body parts, biomolecules (“sensu”)• Compatible with Mayr’s concept of species as
populations: each taxon quality corresponds to exactly one group of organisms
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Use cases
Definition Ontologies Representation 1 2 3 4 [5] Conclusion
• Embedded in top-level ontology BioTop
• Demonstration taxon quality hierarchy “taxdemo” in http://purl.org/biotop
• NCBI taxonomy converted into OWL-DL taxon quality hierarchy (Dumontier Lab, Carleton University, Canada)
• Suggested formalism for the organism hierarchy redesign of SNOMED CT
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Acknowledgements:
Alan Rector, ManchesterMichel Dumontier, Ottawaanonymous reviewers
The Ontology of Biological Taxa
Stefan SchulzHolger StenzhornMartin Boeker