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    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>Improvements to the Drosophila anatomy ontology</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Marta Costa</string-name>
          <email>m.costa@gen.cam.ac.uk</email>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>David Osumi-Sutherland</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Steven Marygold</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Nick Brown</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>FlyBase, Department of Genetics, University of Cambridge</institution>
          ,
          <addr-line>Downing Street, Cambridge</addr-line>
          ,
          <country country="UK">UK</country>
        </aff>
      </contrib-group>
      <pub-date>
        <year>2015</year>
      </pub-date>
      <abstract>
        <p>The Drosophila anatomy ontology (DAO) defines the broad anatomy of the fruitfly Drosophila melanogaster, a genetic model organism. It contains over 8700 classes, with close to half of these corresponding to neuroanatomical terms. We are systematically reviewing the DAO classes, improving the textual information and classification. This includes adding definitions, comments and synonyms, as well as formal definitions, which results in a full classification in some cases. Classes belonging to each of the defined organ systems are reviewed together to improve consistency of free text and formalisation. So far we have reviewed 7 of the 11 organs system classes, resulting in 83% of classes having a definition.</p>
      </abstract>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>INTRODUCTION</title>
      <p>
        The Drosophila anatomy ontology (DAO)
        <xref ref-type="bibr" rid="ref1">(Costa et al.,
2013)</xref>
        is an ontology that describes the wild-type anatomy
of Drosophila, containing over 8700 classes. It is used by
FlyBase
        <xref ref-type="bibr" rid="ref2">(Dos Santos et al., 2015)</xref>
        , the gene and genomic
database for Drosophila, for manual curation of phenotypes
and expression patterns. Users are also able to query for this
type of data, either through FlyBase or Virtual Fly Brain
        <xref ref-type="bibr" rid="ref4">(Milyaev et al., 2012)</xref>
        . Having an accurate, encompassing
and human-readable ontology is therefore essential to enable
curators to choose the correct anatomy term, and for users to
easily navigate the data.
      </p>
      <p>
        When the DAO was first developed over 20 years ago, it did
not include textual information or significant formalisation.
A large effort has been undertaken in the last 9 years to
improve this situation
        <xref ref-type="bibr" rid="ref1">(Costa et al., 2013)</xref>
        . This work has
resulted in 83% of classes now having a definition and the
classification having been greatly improved. The DAO
currently contains 46 object properties and over 18,000
subclass axioms, with over 2,500 equivalent class axioms, with
around 50% of over 10,000 classifications being inferred.
New DAO classes are curated from the published literature,
if enough evidence regarding their morphological
characterisation, identity and if appropriate, function, are provided.
Every class includes a definition, synonyms and comments
each attributed to a source reference.
      </p>
      <p>The neuroanatomy field has grown massively in the last few
years thanks to technical advances, enabling researchers to
identify and characterize the function of individual neurons
and several projects are currently underway to map all
neurons in a variety of model organisms. We, in collaboration
with the Virtual Fly Brain project, have focused on
capturing this information in Drosophila. Currently, 46% of the
DAO comprises terms that are part of the nervous system,
including close to 2300 distinct neuron classes, over 220
neuroblast lineage clones and neuropils.</p>
      <p>Here, we present our most recent work in improving the
textual information and formalisation patterns of DAO
classes.
2</p>
    </sec>
    <sec id="sec-2">
      <title>RESULTS</title>
      <p>In order to maintain consistency between related terms, we
are reviewing existing classes by making use of their current
classification into 11 different organ systems, such as the
tracheal, muscle, adipose, etc. Around 80% of classes in the
DAO had previously been classified as part of an organ
system previously, thus making it easy to retrieve a list of
classes to review. Work has proceeded class by class, improving
both the textual information and formalisation. When
necessary, we have sought advice from expert researchers.
The systematic review of classes uncovered several cases of
redundancy and duplication, which were resolved by
obsoleting one of the terms. For example, the classes Malpighian
tubule Type II cell (see section 2.1) and excretory star cell
were found to refer to same entity. In this case, the latter
was obsoleted, and the name added as a synonym to the
former.</p>
      <p>We have concluded this review for 7 of the 11 organ
systems (muscle, tracheal, reproductive, digestive, circulatory,
excretory and adipose), corresponding to 570 classes. Work
is ongoing to complete the remaining (muscle, nervous,
endocrine and sensory).</p>
      <sec id="sec-2-1">
        <title>2.1 Improving textual information</title>
        <p>We have added textual definitions to 83% of DAO classes,
an improvement of 10% since October 2013. The definition
describes the general classification of the anatomical entity,
its properties, and when appropriate, any distinguishing
traits. These statements are supported by references, either
cited in the text, or listed at the end with a publication
identifier (mostly a FlyBase one: prefix FBrf followed by 7
digits).</p>
        <p>Comments are added when appropriate, for one of two
reasons. The first is to provide relevant information relating to
the experimental setup when, for example, investigating the
function of a neuron. The second is to clarify the
relationship between competing nomenclatures.</p>
        <p>Synonyms from the published literature are added to each
class, together with references. The addition of synonyms
has particular relevance to anatomy ontologies, for which
competing nomenclatures often exist.</p>
        <p>An example of the textual information for a class is below:
name: Malpighian tubule Type II cell
definition: "Morphologically distinct cell type found
only in the initial, transitional and main segments of the
Malpighian tubules interspersed with Type I cells. Type
II cells are smaller and flatter than Type I cells, with
shorter (main segment) or no (initial region) apical
microvilli. Type II cells originate from a subset of caudal
visceral mesoderm cells that overlie the tubule
primordia as they evert from the hindgut. By stage 15, Type II
cells have been incorporated in the tubules and adopt
epithelial characteristics. In the mature tubules there are
on average 110 Type II cells." [FlyBase:FBrf0064792,
FlyBase:FBrf0102373, FlyBase:FBrf0160477,
FlyBase:FBrf0222532]
comment: These cells are involved in primary urine
production via the presence of ion channels that allow
chloride and water to enter the tubule lumen (O'Donnell
et al., 1998).
synonyms: "excretory star cell" EXACT; "Malpighian
tubule stellate cell" EXACT [FlyBase:FBrf0030988]</p>
      </sec>
      <sec id="sec-2-2">
        <title>2.2 Improving formal definitions</title>
        <p>In systems such as the tracheal, in which certain structures
are repeated in each metameric unit, adding a formal
definition to each of these terms significantly increases the
robustness of error checking procedures. An example of some
of the relationships that are added is below:
name: adult abdominal spiracular branch
intersection_of: FBbt:00003071 ! adult spiracular
branch
intersection_of: connected_to FBbt:00003040 ! adult
lateral trunk
intersection_of: connected_to FBbt:00004814 ! adult
abdominal spiracle
intersection_of: part_of FBbt:00003024 ! adult
abdominal segment
In other instances, adding a formal definition allows for full
classification of terms. This becomes particularly relevant
for neuroanatomy, a field in which new neuron types are
being frequently described. Having a formal definition for a
class ensures that new terms are correctly classified,
provided that enough information is available, such as
developmental origin.</p>
        <p>An example of a neuron class that can be fully classified
based on expression (which identifies this subset of very
well studied neurons) and developmental origin is below.
This formalisation pattern, or a similar one (excluding only
the neuroblast information), was used to define the 104
classes of adult fruitless neurons.</p>
        <p>name: adult fruitless aDT-b (female) neuron
intersection_of: FBbt:00005106 ! neuron
intersection_of: develops_from FBbt:00050148 !
neuroblast CREa1 (female)
intersection_of: expresses FlyBase:FBgn0004652 !
fruitless
intersection_of: part_of FBbt:00110416 ! adult
fruitless aDT-b (female) lineage clone</p>
      </sec>
    </sec>
    <sec id="sec-3">
      <title>3 DISCUSSION</title>
      <p>We have reviewed terms that belong to 7 of the 11 organ
systems in the DAO, improving the textual information
essential for casual users, and the formalisation necessary to
easily maintain a correct classification and to prevent the
introduction of errors. Reviewing related classes as a group
helps to maintain consistency in the ontology, both in terms
of free text and the formalisation patterns used.</p>
      <p>Future work will focus on completing the systematic review
of the DAO by revising the classes in the remaining 4 organ
systems.</p>
    </sec>
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