Introduction to Bio-Ontologies explores the computational
background of ontologies. Emphasizing computational and algorithmic
issues surrounding bio-ontologies, this self-contained text helps
readers understand ontological algorithms and their
applications.
The first part of the book defines ontology and bio-ontologies.
It also explains the importance of mathematical logic for
understanding concepts of inference in bio-ontologies, discusses
the probability and statistics topics necessary for understanding
ontology algorithms, and describes ontology languages, including
OBO (the preeminent language for bio-ontologies), RDF, RDFS, and
OWL.
The second part covers significant bio-ontologies and their
applications. The book presents the Gene Ontology; upper-level
ontologies, such as the Basic Formal Ontology and the Relation
Ontology; and current bio-ontologies, including several anatomy
ontologies, Chemical Entities of Biological Interest, Sequence
Ontology, Mammalian Phenotype Ontology, and Human Phenotype
Ontology.
The third part of the text introduces the major graph-based
algorithms for bio-ontologies. The authors discuss how these
algorithms are used in overrepresentation analysis, model-based
procedures, semantic similarity analysis, and Bayesian networks for
molecular biology and biomedical applications.
With a focus on computational reasoning topics, the final part
describes the ontology languages of the Semantic Web and their
applications for inference. It covers the formal semantics of RDF
and RDFS, OWL inference rules, a key inference algorithm, the
SPARQL query language, and the state of the art for querying OWL
ontologies.
Web Resource
Software and data designed to complement material in the text are
available on the book s website: http: //bio-ontologies-book.org
The site provides the R Robo package developed for the book, along
with a compressed archive of data and ontology files used in some
of the exercises. It also offers teaching/presentation slides and
links to other relevant websites.
This book provides readers with the foundation to use ontologies
as a starting point for new bioinformatics research projects or to
support current molecular genetics research projects. By supplying
a self-contained introduction to OBO ontologies and the Semantic
Web, it bridges the gap between both fields and helps readers see
what each can contribute to the analysis and understanding of
biomedical data.
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