GOexpress: an R/Bioconductor package for the identification and visualisation of robust gene ontology signatures through supervised learning of gene expression data

Background: Identification of gene expression profiles that differentiate experimental groups is critical for discovery and analysis of key molecular pathways and also for selection of robust diagnostic or prognostic biomarkers. While integration of differential expression statistics has been used to refine gene set enrichment analyses, such approaches are typically limited to single gene lists resulting from simple two-group comparisons or time-series analyses. In contrast, functional class scoring and machine learning approaches provide powerful alternative methods to leverage molecular measurements for pathway analyses, and to compare continuous and multi-level categorical factors. Results: We introduce GOexpress, a software package for scoring and summarising the capacity of gene ontology features to simultaneously classify samples from multiple experimental groups. GOexpress integrates normalised gene expression data (e.g., from microarray and RNA-seq experiments) and phenotypic information of individual samples with gene ontology annotations to derive a ranking of genes and gene ontology terms using a supervised learning approach. The default random forest algorithm allows interactions between all experimental factors, and competitive scoring of expressed genes to evaluate their relative importance in classifying predefined groups of samples. Conclusions: GOexpress enables rapid identification and visualisation of ontology-related gene panels that robustly classify groups of samples and supports both categorical (e.g., infection status, treatment) and continuous (e.g., time-series, drug concentrations) experimental factors. The use of standard Bioconductor extension packages and publicly available gene ontology annotations facilitates straightforward integration of GOexpress within existing computational biology pipelines.Department of Agriculture, Food and the MarineEuropean Commission - Seventh Framework Programme (FP7)Science Foundation IrelandUniversity College Dubli

Ontology selection: ontology evaluation on the real Semantic Web

The increasing number of ontologies on the Web and the appearance of large scale ontology repositories has brought the topic of ontology selection in the focus of the semantic web research agenda. Our view is that ontology evaluation is core to ontology selection and that, because ontology selection is performed in an open Web environment, it brings new challenges to ontology evaluation. Unfortunately, current research regards ontology selection and evaluation as two separate topics. Our goal in this paper is to explore how these two tasks relate. In particular, we are interested to get a better understanding of the ontology selection task and filter out the challenges that it brings to ontology evaluation. We discuss requirements posed by the open Web environment on ontology selection, we overview existing work on selection and point out future directions. Our major conclusion is that, even if selection methods still need further development, they have already brought novel approaches to ontology evaluatio

Personalized content retrieval in context using ontological knowledge

Personalized content retrieval aims at improving the retrieval process by taking into account the particular interests of individual users. However, not all user preferences are relevant in all situations. It is well known that human preferences are complex, multiple, heterogeneous, changing, even contradictory, and should be understood in context with the user goals and tasks at hand. In this paper, we propose a method to build a dynamic representation of the semantic context of ongoing retrieval tasks, which is used to activate different subsets of user interests at runtime, in a way that out-of-context preferences are discarded. Our approach is based on an ontology-driven representation of the domain of discourse, providing enriched descriptions of the semantics involved in retrieval actions and preferences, and enabling the definition of effective means to relate preferences and context

Semantic metrics

In the context of the Semantic Web, many ontology-related operations, e.g. ontology ranking, segmentation, alignment, articulation, reuse, evaluation, can be boiled down to one fundamental operation: computing the similarity and?or dissimilarity among ontological entities, and in some cases among ontologies themselves. In this paper, we review standard metrics for computing distance measures and we propose a series of semantic metrics. We give a formal account of semantic metrics drawn from a variety of research disciplines, and enrich them with semantics based on standard Description Logic constructs. We argue that concept-based metrics can be aggregated to produce numeric distances at ontology-level and we speculate on the usability of our ideas through potential areas

Comparing human and automatic thesaurus mapping approaches in the agricultural domain

Knowledge organization systems (KOS), like thesauri and other controlled vocabularies, are used to provide subject access to information systems across the web. Due to the heterogeneity of these systems, mapping between vocabularies becomes crucial for retrieving relevant information. However, mapping thesauri is a laborious task, and thus big efforts are being made to automate the mapping process. This paper examines two mapping approaches involving the agricultural thesaurus AGROVOC, one machine-created and one human created. We are addressing the basic question "What are the pros and cons of human and automatic mapping and how can they complement each other?" By pointing out the difficulties in specific cases or groups of cases and grouping the sample into simple and difficult types of mappings, we show the limitations of current automatic methods and come up with some basic recommendations on what approach to use when.Comment: 10 pages, Int'l Conf. on Dublin Core and Metadata Applications 200

Ranking relations using analogies in biological and information networks

Analogical reasoning depends fundamentally on the ability to learn and generalize about relations between objects. We develop an approach to relational learning which, given a set of pairs of objects $\mathbf{S}=\{A^{(1)}:B^{(1)},A^{(2)}:B^{(2)},\ldots,A^{(N)}:B ^{(N)}\}$, measures how well other pairs A:B fit in with the set $\mathbf{S}$. Our work addresses the following question: is the relation between objects A and B analogous to those relations found in $\mathbf{S}$? Such questions are particularly relevant in information retrieval, where an investigator might want to search for analogous pairs of objects that match the query set of interest. There are many ways in which objects can be related, making the task of measuring analogies very challenging. Our approach combines a similarity measure on function spaces with Bayesian analysis to produce a ranking. It requires data containing features of the objects of interest and a link matrix specifying which relationships exist; no further attributes of such relationships are necessary. We illustrate the potential of our method on text analysis and information networks. An application on discovering functional interactions between pairs of proteins is discussed in detail, where we show that our approach can work in practice even if a small set of protein pairs is provided.Comment: Published in at http://dx.doi.org/10.1214/09-AOAS321 the Annals of Applied Statistics (http://www.imstat.org/aoas/) by the Institute of Mathematical Statistics (http://www.imstat.org