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Uberon cl workshop_haendel

Comparing anatomical data across species is unreliable due to
the use of species-specific anatomical ontologies. Existing
approaches include the generation of inter-ontology mappings
using text matching, but these can be error prone and difficult
to maintain.

We have developed an uber-anatomy ontology called Uberon which
consists of classes generic enough to subsume species-specific
classes in existing ontologies. Uberon was seeded using
standard text matching methods, but was iteratively refined
through a combination of manual curation and automated
ontology population and computational reasoning. The resulting
ontology includes groupings that would not have been found
using text matching methods alone, and excludes common
mistakes found in mappings.

Text-based mappings are unreliable, and manual curation can be
time consuming. However if NLP methods are combined with
curation, then we can have the benefits of rapid ontology
construction with expert oversight. Using logic-based
automation techniques the results can be enhanced further.

Uberon has been applied in different domains, including
phenotype comparison and the Gene Ontology.

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Uberon cl workshop_haendel

  1. 1. The “über-ontology” (Uberon) Melissa Häendel, Chris Müngall, George Gkoütos Cell Ontology Workshop May, 2010
  2. 2. Uberon consists of species-neutral classes derived from many contributing ontologies What is Uberon? UBERON: ear vesicle UBERON: ear vesicle D
  3. 3. Uberon composition Uberon classes subsume classes in contributing AOs 13629 Xrefs to 4087 classes
  4. 4. Anatomical ontology domains and Uberon CARO TAOAAO XAO ZFA UBERON MAFBbt
  5. 5. Uberon advantages • Logical definitions in species-neutral ontologies • Ontology alignment • Mapping validation • Reasoning across species • Homology neutral
  6. 6. Logical definitions in GO using Uberon Uberon can make explicit many anatomical definitions already in GO GO:notochord formation: The formation of the notochord from the chordamesoderm. The notochord is composed of large cells packed within a firm connective tissue sheath and is found in all chordates at the ventral surface of the neural tube. In vertebrates, the notochord contributes to the vertebral column.
  7. 7. Logical definitions in CL using Uberon UBERON: trachea UBERON: respiratory airway CL: tracheal epithelial cell CL: epithelial cell is_a part_of is_a Vertebrata only_in_taxon Uberon trachea: A trachea held open by up to 20 C-shaped rings of cartilage. The trachea is the portion of the airway that attaches to the bronchi as it branches. [GO:0060438, Wikipedia:Vertebrate_trachea] Uberon can help ensure applicability of definitions in CL that rely on gross anatomical structures.
  8. 8. Uberon logical definitions represent functional, developmental, spatial, etc., axes of classification Logical definitions in Uberon using external ontologies UBERON: trachea UBERON: respiratory airway CL: tracheal epithelial cell CL: epithelial cell is_a part_of is_a Vertebrata only_in_taxon UBERON: respiratory system part_of GO: respiratory gaseous exchangecapable_of
  9. 9. Differences in bone and bone tissue representation Ontology alignment
  10. 10. Using Uberon for alignment facilitates identification of missing classes Ontology alignment
  11. 11. Using Uberon to validate ontology mappings Class A Class B Biportal Uberon FMA portion of blood MA blood No Yes ZFA Macula MA macula Yes No ZFA aortic arch MA arch of aorta Yes No ZFA hypophysis MA pitiuitary No Yes FMA gustatory organ FBbt gustatory sensory organ No Yes FMA extensor retinaculum of wrist MA retina Yes No FMA tibia FBbt tibia Yes No Many of these mappings have higher level least-common subsumers
  12. 12. Developmental Biology, Scott Gilbert, 6th ed. Using Uberon to validate ontology mappings Text match mappingFruit fly ‘tibia’ Human ‘tibia’ UBERON: tibia UBERON: bone is_a is_a is_a Vertebrata Drosophila melanogaster part_of Homo sapiens is_a only_in_taxon part_of NOT is_a
  13. 13. Text matching Stem and synonym matching Reasoning • Keep axioms that are consistent across AOs • automated consistency checks for disjointeness violations Uberon iterative development cycle
  14. 14. Reasoning across species: querying for genes in similar structures • Genetic mechanisms may be reused in analogous structures • Structures may be homologous in ways that are yet Vertebrate chambered heart Arthropod dorsal vessel Xavier-Neto et al., Cell Mol Life Sci, 2007 Process Conserved genes Specification tinman/nkx2.5, wnts A-P patterning Hox genes, RA Morphogenesis Seven-up/Couptf-II Uberon heart: A hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. [GO:0007507] Xrefs to FBbt, ZFA, FMA, etc. Uberon has a heart.
  15. 15. Panganiban et al., PNAS, 1997 Distal-less orthologs participate in distal-proximal pattern formation and appendage morphogenesis Distal-less (Dll) expression mouse limb sea urchin tube feet ascidian ampulla polychaete parapodia Reasoning across species: querying for genes in similar structures
  16. 16. What about homology? Evolutionary community: Capture multiple homologous_to statements external to Uberon using evidence and attribution. Allows for phylogenetic optimization. Model organism databases: Use single well-established homologous_to relations between structures in different MODs to create homology links between structures. ZFIN Uberon is homology-neutral
  17. 17. Uberon Conclusions • Species-neutral ontology that subsumes contributing taxon-specific anatomy ontologies • Useful for ontology alignment • Useful for mapping validation • Can be used for logical definitions in other species- neutral OBO ontologies • Inferred multiple inheritance to represent non- structural axes of anatomical classification • Allows query across species for similar structures and separate homology attribution
  18. 18. Uberon is available at: More information is here: (open uberon_edit.obo with the reasoner on)