470 research outputs found
Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases
Phenotypes are the observable characteristics of an organism arising from its
response to the environment. Phenotypes associated with engineered and natural
genetic variation are widely recorded using phenotype ontologies in model
organisms, as are signs and symptoms of human Mendelian diseases in databases
such as OMIM and Orphanet. Exploiting these resources, several computational
methods have been developed for integration and analysis of phenotype data to
identify the genetic etiology of diseases or suggest plausible interventions. A
similar resource would be highly useful not only for rare and Mendelian
diseases, but also for common, complex and infectious diseases. We apply a
semantic text- mining approach to identify the phenotypes (signs and symptoms)
associated with over 8,000 diseases. We demonstrate that our method generates
phenotypes that correctly identify known disease-associated genes in mice and
humans with high accuracy. Using a phenotypic similarity measure, we generate a
human disease network in which diseases that share signs and symptoms cluster
together, and we use this network to identify phenotypic disease modules
Prediction of Metabolic Pathways Involvement in Prokaryotic UniProtKB Data by Association Rule Mining
The widening gap between known proteins and their functions has encouraged
the development of methods to automatically infer annotations. Automatic
functional annotation of proteins is expected to meet the conflicting
requirements of maximizing annotation coverage, while minimizing erroneous
functional assignments. This trade-off imposes a great challenge in designing
intelligent systems to tackle the problem of automatic protein annotation. In
this work, we present a system that utilizes rule mining techniques to predict
metabolic pathways in prokaryotes. The resulting knowledge represents
predictive models that assign pathway involvement to UniProtKB entries. We
carried out an evaluation study of our system performance using
cross-validation technique. We found that it achieved very promising results in
pathway identification with an F1-measure of 0.982 and an AUC of 0.987. Our
prediction models were then successfully applied to 6.2 million
UniProtKB/TrEMBL reference proteome entries of prokaryotes. As a result,
663,724 entries were covered, where 436,510 of them lacked any previous pathway
annotations
Ontology-based cross-species integration and analysis of Saccharomyces cerevisiae phenotypes
Ontologies are widely used in the biomedical community for annotation and integration of databases. Formal definitions can relate classes from different ontologies and thereby integrate data across different levels of granularity, domains and species. We have applied this methodology to the Ascomycete Phenotype Ontology (APO), enabling the reuse of various orthogonal ontologies and we have converted the phenotype associated data found in the SGD following our proposed patterns. We have integrated the resulting data in the cross-species phenotype network PhenomeNET, and we make both the cross-species integration of yeast phenotypes and a similarity-based comparison of yeast phenotypes across species available in the PhenomeBrowser. Furthermore, we utilize our definitions and the yeast phenotype annotations to suggest novel functional annotations of gene products in yeast
Logical Gene Ontology Annotations (GOAL): exploring gene ontology annotations with OWL
MOTIVATION: Ontologies such as the Gene Ontology (GO) and their use in annotations make cross species comparisons of genes possible, along with a wide range of other analytical activities. The bio-ontologies community, in particular the Open Biomedical Ontologies (OBO) community, have provided many other ontologies and an increasingly large volume of annotations of gene products that can be exploited in query and analysis. As many annotations with different ontologies centre upon gene products, there is a possibility to explore gene products through multiple ontological perspectives at the same time. Questions could be asked that link a gene product’s function, process, cellular location, phenotype and disease. Current tools, such as AmiGO, allow exploration of genes based on their GO annotations, but not through multiple ontological perspectives. In addition, the semantics of these ontology’s representations should be able to, through automated reasoning, afford richer query opportunities of the gene product annotations than is currently possible. RESULTS: To do this multi-perspective, richer querying of gene product annotations, we have created the Logical Gene Ontology, or GOAL ontology, in OWL that combines the Gene Ontology, Human Disease Ontology and the Mammalian Phenotype Ontology, together with classes that represent the annotations with these ontologies for mouse gene products. Each mouse gene product is represented as a class, with the appropriate relationships to the GO aspects, phenotype and disease with which it has been annotated. We then use defined classes to query these protein classes through automated reasoning, and to build a complex hierarchy of gene products. We have presented this through a Web interface that allows arbitrary queries to be constructed and the results displayed. CONCLUSION: This standard use of OWL affords a rich interaction with Gene Ontology, Human Disease Ontology and Mammalian Phenotype Ontology annotations for the mouse, to give a fine partitioning of the gene products in the GOAL ontology. OWL in combination with automated reasoning can be effectively used to query across ontologies to ask biologically rich questions. We have demonstrated that automated reasoning can be used to deliver practical on-line querying support for the ontology annotations available for the mouse. AVAILABILITY: The GOAL Web page is to be found at http://owl.cs.manchester.ac.uk/goal
From axioms over graphs to vectors, and back again: evaluating the properties of graph-based ontology embeddings
Several approaches have been developed that generate embeddings for
Description Logic ontologies and use these embeddings in machine learning. One
approach of generating ontologies embeddings is by first embedding the
ontologies into a graph structure, i.e., introducing a set of nodes and edges
for named entities and logical axioms, and then applying a graph embedding to
embed the graph in . Methods that embed ontologies in graphs
(graph projections) have different formal properties related to the type of
axioms they can utilize, whether the projections are invertible or not, and
whether they can be applied to asserted axioms or their deductive closure. We
analyze, qualitatively and quantitatively, several graph projection methods
that have been used to embed ontologies, and we demonstrate the effect of the
properties of graph projections on the performance of predicting axioms from
ontology embeddings. We find that there are substantial differences between
different projection methods, and both the projection of axioms into nodes and
edges as well ontological choices in representing knowledge will impact the
success of using ontology embeddings to predict axioms
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Semantic units: organizing knowledge graphs into semantically meaningful units of representation
Background
In today’s landscape of data management, the importance of knowledge graphs and ontologies is escalating as critical mechanisms aligned with the FAIR Guiding Principles—ensuring data and metadata are Findable, Accessible, Interoperable, and Reusable. We discuss three challenges that may hinder the effective exploitation of the full potential of FAIR knowledge graphs.
Results
We introduce “semantic units” as a conceptual solution, although currently exemplified only in a limited prototype. Semantic units structure a knowledge graph into identifiable and semantically meaningful subgraphs by adding another layer of triples on top of the conventional data layer. Semantic units and their subgraphs are represented by their own resource that instantiates a corresponding semantic unit class. We distinguish statement and compound units as basic categories of semantic units. A statement unit is the smallest, independent proposition that is semantically meaningful for a human reader. Depending on the relation of its underlying proposition, it consists of one or more triples. Organizing a knowledge graph into statement units results in a partition of the graph, with each triple belonging to exactly one statement unit. A compound unit, on the other hand, is a semantically meaningful collection of statement and compound units that form larger subgraphs. Some semantic units organize the graph into different levels of representational granularity, others orthogonally into different types of granularity trees or different frames of reference, structuring and organizing the knowledge graph into partially overlapping, partially enclosed subgraphs, each of which can be referenced by its own resource.
Conclusions
Semantic units, applicable in RDF/OWL and labeled property graphs, offer support for making statements about statements and facilitate graph-alignment, subgraph-matching, knowledge graph profiling, and for management of access restrictions to sensitive data. Additionally, we argue that organizing the graph into semantic units promotes the differentiation of ontological and discursive information, and that it also supports the differentiation of multiple frames of reference within the graph
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