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  <front>
    <journal-meta />
    <article-meta>
      <title-group>
        <article-title>Use of OWL 2 to Facilitate a Biomedical Knowledge Base Extracted from the GENIA Corpus</article-title>
      </title-group>
      <contrib-group>
        <contrib contrib-type="author">
          <string-name>Rafal Rak</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Lukasz Kurgan</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <contrib contrib-type="author">
          <string-name>Marek Reformat</string-name>
          <xref ref-type="aff" rid="aff0">0</xref>
        </contrib>
        <aff id="aff0">
          <label>0</label>
          <institution>Department of Electrical and Computer Engineering, University of Alberta</institution>
        </aff>
      </contrib-group>
      <abstract>
        <p>The annotation of the GENIA corpus, a set of biomedical articles, targets the classi cation of biological entities based on their association with a domain-tailored taxonomy of categories. By incorporating information extraction process on the corpus we have developed a knowledge base (KB) that includes a more comprehensive taxonomy of categories, relationships between biological entities, and a hierarchy of relationships. We present our experiences in exploring the expressiveness of OWL to accommodate our KB. OWL proves to be su cient to accommodate the extracted knowledge, however, it lacks expressive power when generalization of knowledge is needed. To this end we endorse recent endeavors in extending OWL with fuzzy description logic.</p>
      </abstract>
    </article-meta>
  </front>
  <body>
    <sec id="sec-1">
      <title>Introduction</title>
      <p>
        The GENIA corpus [
        <xref ref-type="bibr" rid="ref1">1</xref>
        ] consists of a set of 2000 annotated abstracts fetched
from the MEDLINE database using a query that concerns \transcription
factors in human blood cells". The corpus annotation includes, but is not limited
to, sentence boundaries, biological entity boundaries, and their association with
biological categories. Biological entities (multi-word expressions that carry some
biologically signi cant meaning) are assign one of 36 distinct categories. These
categories together with additional 12 concepts that generalize them constitute
the GENIA ontology. Since its development the corpus and the ontology have
been extensively used by researchers in biological entity recognition, ontology
creation and population, binary relation extraction, and query processing [2{5].
      </p>
      <p>We propose an extension to the original GENIA ontology that not only makes
the original ontology more comprehensive for reasoners but also accounts for
additional information embedded in the GENIA corpus. We are particularly
interested in possibilities of encoding this new knowledge in OWL, an ontology
language that is becoming increasingly popular in both academic and commercial
sectors. The proposed extension to the original ontology involves 1) enriching
conceptually the structure of the original taxonomy of categories, 2) asserting the
category membership of biological entities, 3) introducing binary relationships
between biological entities, 4) building the hierarchy of relationships, and 5)
connecting the ontology to an external, well-developed source of knowledge.</p>
      <p>We employed an information extraction process on the corpus in order to
evince the above mentioned features based on which the ontology is built. The
process produced a set of biological entities, relationships between them, and
their lexical decomposition. We also associated the biological entities with their
descriptions using the UMLS Metathesaurus, a large vocabulary database that
contains information about biomedical and health related concepts.</p>
      <p>
        The rst version of the extended GENIA ontology in OWL 1 has already
been published [
        <xref ref-type="bibr" rid="ref6">6</xref>
        ]. Here we report on an ongoing work on the second version,
which encompasses a more thorough knowledge base and is encoded in OWL 2.
2
      </p>
    </sec>
    <sec id="sec-2">
      <title>Ontology Construction</title>
      <p>The original GENIA taxonomy consists of only the declaration of classes and
axioms about subclasses. The taxonomy \conceals" potentially useful pieces of
information, such as: 1) there is a few default terminal classes that serve as
placeholders for instances that do not belong to any of these classes' siblings, 2)
only terminal classes have instances, and 3) an instance belongs to a single class.</p>
      <p>The fact that the biological entities can directly belong to the terminal classes
only can be embedded in the ontology by introducing covering axioms, such that
C D1t: : :tDn, where D1; : : : ; Dn are subclasses of class C, i.e., if an individual
is a member of class C it must also be a member of at least one of C's subclasses.
We further narrow the \at least one" expression to \exactly one" by declaring
that the sibling classes are disjoint, i.e., D1 u : : : u Dn v?. The disjointness of
classes is assumed by the fact that each distinct biological entity that appears in
the corpus is annotated to one and only one class. The last axiom also addresses
the issue of the default classes.</p>
      <p>Asserting the membership of individuals (biological entities) is
straightforward. Each annotated (and preprocessed) biological entity is a member of a class
indicated by the annotation.</p>
      <p>Due to the OWL entity naming constraints the names of individuals are
encoded (but still fully understandable by humans). For the sake of clarity each
individual additionally carries a label property that contains the original form
of the biological entity.</p>
      <p>We also introduce the hasCUI property that links an individual with UMLS
Metathesaurus through its Concept Unique Identi ers. Following nested tags in
the corpus we add additional properties, stemsFrom and isRootFor, that hold
between individuals, the name one of which is lexically composed from the other.</p>
      <p>The identi cation of acronyms (during the information extraction process)
leads to another fact that can be stated about two individuals, one of which is
an acronym of the other, namely that the two are the same.</p>
      <p>The TBox of our ontology is extended by declaring a set of object properties
that will be used to assert verb relationships between biological entities in the
corpus. These relationships are fed by the relationship extraction process. The
extracted triples in the form of (subject, verb expression, object ) are used to
enrich both the TBox and the ABox, by (1) deriving a hierarchical structure of
object properties based on the syntax of verb expressions, and (2) asserting a
relationship between the subject and the object, described by the verb expression.</p>
      <p>The hierarchy of verb expressions is built by looking for expressions that
have the same verb but di erent prepositions. We make an exception to this
rule whenever the preposition by is encountered, which suggests that a verb
expression with this preposition is in inverse relation to the verb alone.</p>
      <p>The classes in our ontology mostly serve as \containers" for individuals, i.e.,
we cannot directly state anything about how they are related other than what was
already discussed about their hierarchy. However, some information about classes
can be inferred from the relationships between individuals, which is explicitly
stated in the ontology by introducing additional axioms using existential and/or
universal quanti cations. By using the universal quanti cation construct we state
that for each class CD: CD v 8R:(CR1 t : : : t CRn), where CRi; : : : ; CRn is a set
of ller classes. This set of classes is obtained directly from all the relationship
triples with the object property R which have an individual of class CD on
the left-hand side of the triple. The set of llers, i.e., right-hand side classes, is
obtained by looking up the membership of the right-hand side individuals. In
order to enforce the existence of a relationship, the last axiom can be replaced
with CD v (9R:CR1 t : : : t 9R:CRn).</p>
      <p>The two types of quanti cations can be combine to create a closure axiom
of the form CD v (9R:CR1 t : : : t 9R:CRn) u 8R:(CR1 t : : : t CRn), or simply
CD v 9R:&gt; u 8R:(CR1 t : : : t CRn). The closure axioms suppress the open world
assumption reasoning in OWL, i.e., they \close" the knowledge base to only
what is known and derived from the corpus.
3</p>
    </sec>
    <sec id="sec-3">
      <title>Discussion</title>
      <p>
        In the previous section we tried to infer some information about relationships
between classes. We achieved that by subsuming the classes with a set of
quanti cations, which resulted in extensive sets of axioms for each class. For some
applications, however, such super uous knowledge may actually be harmful. For
example, there has been a number of attempts (e.g., [
        <xref ref-type="bibr" rid="ref3 ref5 ref7">3, 5, 7</xref>
        ], to name just a few
focused exclusively on the GENIA corpus) to generalize knowledge extracted
from text corpora. The atomic pieces of knowledge such as relationships between
individuals are generalized to state certain facts about the relationships between
classes. In fact, the end product usually yields a set of classes and relationships
between them only, neglecting the individuals.
      </p>
      <p>The process of generalizing relationships is usually based on assigning some
con dence, with which a particular relationship holds between two classes, based
on an individual membership distribution. By knowing the con dence of a
relationship, useful information can be inferred about (1) the signi cance of such a
relationship, and (2) the probability of an event that a pair of individuals will
participate in this relationship.</p>
      <p>
        Although the con dence of relationships can be calculated indirectly by an
application that works on an OWL ontology, this type of information cannot
be explicitly stated in OWL (in neither of its versions). OWL 2 provides the
expressiveness of the SROIQ DL language, and as such, does not allow for any
kind of uncertainty in individuals' membership, i.e., an individual (a pair of
individuals) either belongs to a concept (a relationship) or not. This uncertainty can
be introduced to the language by the fuzzy logic extension, originally proposed
by [
        <xref ref-type="bibr" rid="ref8">8</xref>
        ]. The extension a ects Boolean operators and quanti ers whose range is
changed from the two-value set f0; 1g to the interval [0; 1].
      </p>
      <p>
        The importance of fuzzy description logic has already been recognized. Major
contributions in both de ning the problem and proposing the OWL syntax of
the fuzzy DL extension include [
        <xref ref-type="bibr" rid="ref10 ref9">9, 10</xref>
        ] and more recently (including new features
of OWL 2) [
        <xref ref-type="bibr" rid="ref11">11</xref>
        ]. A fuzzy DL reasoner is also available as described in [
        <xref ref-type="bibr" rid="ref12">12</xref>
        ].
      </p>
      <p>The capability to embed uncertainty in asserting the membership of
individuals would be useful to evince some kind of generalization and, to a certain
degree, assess a knowledge base.</p>
      <p>We would like to thank Dr. Inge Christiaens for biomedical consultation.</p>
    </sec>
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