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Creating computable definitions for clades using the Web Ontology Language (OWL)

Gaurav Vaidya
December 06, 2016

Creating computable definitions for clades using the Web Ontology Language (OWL)

Presented at TDWG 2016 as part of a symposium on semantics

Gaurav Vaidya

December 06, 2016
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  1. December 6, 2016
    Computable definitions for clades
    Gaurav Vaidya, Hilmar Lapp, Nico Cellinese

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  2. Campanula latifolia Lobelia cardinalis

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  3. Campanula latifolia Lobelia cardinalis

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  4. View Slide

  5. View Slide

  6. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum

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  7. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum

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  8. Hinchliff et al. (2016)
    www.opentreeoflife.org

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  9. The Solution: Phyloreferences
    ✤ Explicit definitions for clades.
    www.phyloref.org

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  10. The Solution: Phyloreferences
    ✤ Explicit definitions for clades.
    ✤ Built around ancestral
    relationships, so they always
    match monophyletic groups.
    www.phyloref.org

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  11. The Solution: Phyloreferences
    ✤ Explicit definitions for clades.
    ✤ Built around ancestral
    relationships, so they always
    match monophyletic groups.
    ✤ But the group’s composition
    may change from tree to tree!
    www.phyloref.org

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  12. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum

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  13. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum

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  14. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  15. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  16. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  17. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  18. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  19. Implementing phyloreferences

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  20. Implementing phyloreferences
    ✤ Could we use off-the-shelf open source tools to find
    clades on phylogenetic trees?

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  21. Implementing phyloreferences
    ✤ Could we use off-the-shelf open source tools to find
    clades on phylogenetic trees?
    ✤ Could we design a system flexible enough to match
    many different kinds of phyloreferences?

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  22. Implementing phyloreferences
    ✤ Could we use off-the-shelf open source tools to find
    clades on phylogenetic trees?
    ✤ Could we design a system flexible enough to match
    many different kinds of phyloreferences?
    ✤ Could we create a test set of phyloreferences and their
    expected matches for testing our software and others?

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  23. Web Ontology Language (OWL)
    ✤ Designed to classify individuals and classes based on
    definitions.

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  24. Web Ontology Language (OWL)
    ✤ Designed to classify individuals and classes based on
    definitions.
    ✤ e.g. A Maharashtrian is a Person who was born in
    the Indian state of Maharashtra.

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  25. Web Ontology Language (OWL)
    ✤ Designed to classify individuals and classes based on
    definitions.
    ✤ e.g. A Maharashtrian is a Person who was born in
    the Indian state of Maharashtra.
    ✤ Uses OWL Reasoners to infer unknown facts from
    known facts.

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  26. Reasoning over facts
    ✤ :Gaurav a :Person

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  27. Reasoning over facts
    ✤ :Gaurav a :Person
    ✤ :Gaurav :bornIn :Mumbai

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  28. Reasoning over facts
    ✤ :Gaurav a :Person
    ✤ :Gaurav :bornIn :Mumbai
    ✤ :Mumbai :partOf :Maharashtra

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  29. Reasoning over facts
    ✤ :Gaurav a :Person
    ✤ :Gaurav :bornIn :Mumbai
    ✤ :Mumbai :partOf :Maharashtra
    ✤ => :Gaurav :bornIn :Maharashtra

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  30. Reasoning over facts
    ✤ :Gaurav a :Person
    ✤ :Gaurav :bornIn :Mumbai
    ✤ :Mumbai :partOf :Maharashtra
    ✤ => :Gaurav :bornIn :Maharashtra
    ✤ Only if :bornIn o :partOf => :bornIn!

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  31. Reasoning over facts
    ✤ :Gaurav a :Person
    ✤ :Gaurav :bornIn :Mumbai
    ✤ :Mumbai :partOf :Maharashtra
    ✤ => :Gaurav :bornIn :Maharashtra
    ✤ Only if :bornIn o :partOf => :bornIn!
    ✤ => :Gaurav a :Maharashtrian

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  32. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum

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  33. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia

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  34. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis

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  35. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis

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  36. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis
    ✤ :Node_1 a :Node

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  37. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis
    ✤ :Node_1 a :Node
    ✤ :has_Child :Campanula_latifolia

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  38. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis
    ✤ :Node_1 a :Node
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child :Campanula_rotundifolia

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  39. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis
    ✤ :Node_1 a :Node
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child :Campanula_rotundifolia

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  40. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis
    ✤ :Node_1 a :Node
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child :Campanula_rotundifolia

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  41. Campanula latifolia
    Campanula rotundifolia
    Lobelia coronopifolia
    Lobelia cardinalis
    Cyphocarpus rigescens
    Chrysanthemum
    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis
    ✤ :Node_1 a :Node
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child :Campanula_rotundifolia

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  42. Phyloreferences in OWL
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  43. Phyloreferences in OWL
    ✤ We’re looking for all the descendants of a Node that:
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  44. Phyloreferences in OWL
    ✤ We’re looking for all the descendants of a Node that:
    ✤ :has_Descendant :Campanula_latifolia
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  45. Phyloreferences in OWL
    ✤ We’re looking for all the descendants of a Node that:
    ✤ :has_Descendant :Campanula_latifolia
    ✤ :excludes_lineage_to :Lobelia_cardinalis
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  46. Phyloreferences in OWL
    ✤ We’re looking for all the descendants of a Node that:
    ✤ :has_Descendant :Campanula_latifolia
    ✤ :has_Child :Campanula_latifolia
    ✤ :excludes_lineage_to :Lobelia_cardinalis
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  47. Phyloreferences in OWL
    ✤ We’re looking for all the descendants of a Node that:
    ✤ :has_Descendant :Campanula_latifolia
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child [:has_Child :Campanula_latifolia]
    ✤ :excludes_lineage_to :Lobelia_cardinalis
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  48. Phyloreferences in OWL
    ✤ We’re looking for all the descendants of a Node that:
    ✤ :has_Descendant :Campanula_latifolia
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child [:has_Child :Campanula_latifolia]
    ✤ :has_Child [:has_Child [:has_Child :Campanula_latifolia]]
    ✤ :excludes_lineage_to :Lobelia_cardinalis
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

    View Slide

  49. Phyloreferences in OWL
    ✤ We’re looking for all the descendants of a Node that:
    ✤ :has_Descendant :Campanula_latifolia
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child [:has_Child :Campanula_latifolia]
    ✤ :has_Child [:has_Child [:has_Child :Campanula_latifolia]]
    ✤ …
    ✤ :excludes_lineage_to :Lobelia_cardinalis
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  50. Phyloreferences in OWL
    ✤ We’re looking for all the descendants of a Node that:
    ✤ :has_Descendant :Campanula_latifolia
    ✤ :excludes_lineage_to :Lobelia_cardinalis
    ✤ Either :has_Sibling :Lobelia_cardinalis
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

    View Slide

  51. Phyloreferences in OWL
    ✤ We’re looking for all the descendants of a Node that:
    ✤ :has_Descendant :Campanula_latifolia
    ✤ :excludes_lineage_to :Lobelia_cardinalis
    ✤ Either :has_Sibling :Lobelia_cardinalis
    ✤ Or :has_Sibling that :has_Descendent :Lobelia_cardinalis
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

    View Slide

  52. Phyloreferences in OWL
    ✤ We’re looking for all the descendants of a Node that:
    ✤ :has_Descendant :Campanula_latifolia
    ✤ :excludes_lineage_to :Lobelia_cardinalis
    Descendants of the ancestors of Campanula latifolia
    that exclude the ancestors of Lobelia cardinalis

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  53. View Slide

  54. What are we building?
    ✤ Software tools and standards for converting phylogenies to
    logical statements.

    View Slide

  55. What are we building?
    ✤ Software tools and standards for converting phylogenies to
    logical statements.
    ✤ Ontologies to make these relationships simple and clear.

    View Slide

  56. What are we building?
    ✤ Software tools and standards for converting phylogenies to
    logical statements.
    ✤ Ontologies to make these relationships simple and clear.
    ✤ Defining terms like excludes_lineage_to so you don’t have to.

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  57. What are we building?
    ✤ Software tools and standards for converting phylogenies to
    logical statements.
    ✤ Ontologies to make these relationships simple and clear.
    ✤ Defining terms like excludes_lineage_to so you don’t have to.
    ✤ Web application and web service to make phyloreferences
    quick and easy to use.

    View Slide

  58. What are we building?
    ✤ Software tools and standards for converting phylogenies to
    logical statements.
    ✤ Ontologies to make these relationships simple and clear.
    ✤ Defining terms like excludes_lineage_to so you don’t have to.
    ✤ Web application and web service to make phyloreferences
    quick and easy to use.
    ✤ Testing to ensure that phyloreferences match the correct nodes
    on the tree.

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  59. View Slide

  60. View Slide

  61. View Slide

  62. View Slide

  63. View Slide

  64. View Slide

  65. View Slide

  66. View Slide

  67. Conclusions

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  68. Conclusions
    ✤ OWL reasoners can identify parts of a phylogenetic tree based on
    phyloreferences expressed in OWL.

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  69. Conclusions
    ✤ OWL reasoners can identify parts of a phylogenetic tree based on
    phyloreferences expressed in OWL.
    ✤ But can we make them work fast, through easy-to-use websites and
    over web services?

    View Slide

  70. Conclusions
    ✤ OWL reasoners can identify parts of a phylogenetic tree based on
    phyloreferences expressed in OWL.
    ✤ But can we make them work fast, through easy-to-use websites and
    over web services?
    ✤ Continuous testing will make sure that all existing phyloreferences
    continue to work in the future.

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  71. Conclusions
    ✤ OWL reasoners can identify parts of a phylogenetic tree based on
    phyloreferences expressed in OWL.
    ✤ But can we make them work fast, through easy-to-use websites and
    over web services?
    ✤ Continuous testing will make sure that all existing phyloreferences
    continue to work in the future.
    ✤ We need you to submit useful phyloreferences and tricky phylogenies,
    to complain about phyloreferences that don’t make sense to you, and
    to use our infrastructure to identify clades in your datasets.

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  72. We need a postdoc!
    ✤ “Specifically, you will work with other projects funded by NSF’s
    GoLife program to obtain large phylogenies, gather sources for
    meaningful phyloreferences, and develop phyloreferencing
    proof-of-concept applications for these. These applications will
    include aggregating trait and other domain-relevant data.”
    ✤ “Strong background in Systematic Biology required. You
    should be well versed in all aspects of theoretical
    phylogenetics and related topics.”
    ✤ http://www.phyloref.org/blog/2016/10/postdoc2-ad/

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  73. Acknowledgements
    ✤ NSF: “An Ontology-Based System for Querying Life
    in a Post-Taxonomic Age” (NSF-DBI 1458604)
    ✤ Available on FigShare: http://dx.doi.org/10.6084/
    m9.figshare.1401984.v1

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  74. Questions?
    phyloref.org
    @phyloref

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  75. References
    ✤ Hinchliff et al. (2016): http://dx.doi.org/10.1073/
    pnas.1423041112

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  76. Images
    ✤ https://commons.wikimedia.org/wiki/
    File:Tree_of_life_SVG.svg
    ✤ https://commons.wikimedia.org/wiki/
    File:Lobelia_cardinalis_-_Cardinal_Flower.jpg
    ✤ https://commons.wikimedia.org/wiki/
    File:Campanula_latifolia_(7814338584).jpg
    ✤ https://commons.wikimedia.org/wiki/
    File:Unclesamwantyou.jpg

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  77. A database of clades: PhyloRegnum
    Name Definition
    Campanulaceae
    The clade originating with the most recent common
    ancestor of Campanula latifolia Linnaeus 1753 and all
    extant organisms or species that share a more recent
    common ancestor with Campanula latifolia than with
    Roussea simplex J. E. Smith 1789,
    Pentaphragma ellipticum Poulsen 1903, or
    Stylidium graminifolium Swartz ex Willdenow 1805.
    Campanuloideae
    The clade originating with the most recent common
    ancestor of Campanula latifolia Linnaeus 1753,
    Wahlenbergia linifolia A. de Candolle 1830, and
    Platycodon grandiflorus (Jacquin) A. de Candolle 1830.

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  78. :Campanula_latifolia :Campanula_rotundifolia
    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis
    ✤ :Node_1 a :Node
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child :Campanula_rotundifolia

    View Slide

  79. :Campanula_latifolia :Campanula_rotundifolia
    has_Sibling
    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis
    ✤ :Node_1 a :Node
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child :Campanula_rotundifolia

    View Slide

  80. :Campanula_latifolia :Campanula_rotundifolia
    has_Sibling
    :Node_1

    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis
    ✤ :Node_1 a :Node
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child :Campanula_rotundifolia

    View Slide

  81. :Campanula_latifolia :Campanula_rotundifolia
    has_Sibling
    :Node_1
    has_Child

    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis
    ✤ :Node_1 a :Node
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child :Campanula_rotundifolia

    View Slide

  82. :Campanula_latifolia :Campanula_rotundifolia
    has_Sibling
    :Node_1
    has_Child has_Child

    ✤ :Campanula_latifolia :has_Sibling 

    :Campanula_rotundifolia
    ✤ :Lobelia_coronopifolia :has_Sibling 

    :Lobelia_cardinalis
    ✤ :Node_1 a :Node
    ✤ :has_Child :Campanula_latifolia
    ✤ :has_Child :Campanula_rotundifolia

    View Slide

  83. A SEMANTIC CLADE
    Node-based Branch-based Apomorphy-based
    A A A
    B B B
    C C C
    Last common ancestor
    of B and C
    X
    Last ancestor of B that
    is not an ancestor of A
    Last ancestor of B that
    exhibits apomorphy X
    The clade originating with:

    View Slide

  84. A SEMANTIC CLADE
    Node-based
    A B C
    Last common ancestor
    of B and C
    The clade originating with:

    View Slide

  85. A SEMANTIC CLADE
    Node-based Branch-based
    A A
    B B
    C C
    Last common ancestor
    of B and C
    Last ancestor of B that
    is not an ancestor of A
    The clade originating with:

    View Slide

  86. View Slide