The book is written as a practical guide for researchers who
want to know more about the role ontologies play in today 's
neuroscientific findings and who may want to develop ontologies for
their specific research domain. It is geared as a reader for the
graduate level and provides a guide to the "best practices" in
neurobiological ontology development, culled from leading experts
in the development and application of ontologies for representation
and meta-analysis of neuroscientific data. The book is divided into
four sections: Motivation, Theory, Practice, and Application. An
appendix reviews current tools and choices for biomedical ontology
development, sharing, and dissemination.
The first section, "Motivations for Ontologies in
Neurobiological Research," is an introduction to and motivation for
ontologies for biomedical researchers and neuroscientists.
Ontologies are defined, and examples regarding concepts, instances,
classes, relationships, and reasoning are drawn from
neuroscientific and clinical research wherever possible. The
motivation for the application of ontologies to biomedical research
is presented, drawing from the successes of the Gene Ontology (GO)
and others, with some foreshadowing of the Applications found in
Section 4. An overview of coordinated efforts in ontology sharing
and re-use is included, so that readers can see what ontologies
already exist and will know where to look for areas of ontology
development and related tools for ontology-based representation in
specific scientific domains.
The second section, "Theory: An Ideal Ontology," focuses on the
theory and formalisms underlying ontology development and
application, presented with a minimum of mathematical symbols. It
is expected that the readership is at most modestly familiar with
first-order logic but not necessarily with more sophisticated
mathematical logics or formalisms. The goal for this section is to
introduce the basics of ontology design and logic-based
implementation, and to explain how ontology design may affect
downstream applications (such as searching and reasoning over data
that have been annotated with an ontology). In addition, this
section broaches a few of the current issues and controversies in
ontology design and implementation that could have a practical
impact on choices in building new ontologies and ontology-based
applications for science. While an entire book can be written about
the choices that go into ontology design, we choose to focus on
educating the reader regarding the basic issues, with indications
for other sources with more detail.
The third section, "Practice: Where Representation Meets
Reality," focuses on the general issues that biomedical researchers
face when using ontologies to represent their studies and data. The
distinction between top-down (knowledge-driven) and bottom-up
(data-driven) methods is a key challenge: researchers often come to
ontology development with a specific problem they wish to solve or
a particular type of data they wish to represent and reason about.
Some start by defining the lowest level concepts that are closest
to the actual instances of data, and others start at the top,
modeling the structure of their research process. Each of these
approaches has merit, and each has challenges. Ultimately, both
top-down and bottom-up methods may be needed to form ontological
bridges between data and the high-level knowledge that is linked to
data in a particular domain. Similarly, in the case where several
ontologies may already be applicable to different portions of the
data or concepts the researcher is attempting to model, the role
and advantages of ontology selection or harmonization needs to be
understood. The final chapter of this section includes a discussion
of where theoretical purity must interact with the complexity of
actually linking to the data and sometimes incomplete knowledge,
and what the resultant hybrid of pure ontology and real-world data
means for ontology application.
The fourth section, "Applications: Case Studies in
Neuro(?)-Ontology Design and Use," elaborates on the design
principles, issues, and challenges discussed in the first three
sections, and presents how these have been applied or addressed
within certain biomedical domains of research. A chapter is
dedicated to the issues of ontologies of neuroanatomy, including
discussion of the methods they have chosen for development and the
best practices they have adopted. This section additionally(?)
presents the vision and current efforts of several ontologies
interacting with each other to represent the experimental concepts,
methods, data, and interpretation of cognitive neuroimaging
studies. The specific challenges of modeling space and time in
physiological research are also included. The final chapter is a
forward-looking piece, accepting that in any subdomain, with
sufficient effort there will come a time when the bulk of the
ontology-building endeavor subsides, and what a fully developed and
applied ontology would mean for scientific discourse in that
domain.
The appendix is a practical compendium of tools and resources
for the beginning ontology developer within biomedical research, to
aid entry into the biomedical ontology community and leverage
existing efforts.
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