Dataset Information

Discovery of Emerging Design Patterns in Ontologies Using Tree Mining.

ABSTRACT: The research goal of this work is to investigate modeling patterns that recur in ontologies. Such patterns may originate from certain design solutions, and they may possibly indicate emerging ontology design patterns. We describe our tree-mining method for identifying the emerging design patterns. The method works in two steps: (1) we transform the ontology axioms in a tree shape in order to find axiom patterns; and then, (2) we use association analysis to mine co-occuring axiom patterns in order to extract emerging design patterns. We conduct an experimental study on a set of 331 ontologies from the BioPortal repository. We show that recurring axiom patterns appear across all individual ontologies, as well as across the whole set. In individual ontologies, we find frequent and non-trivial patterns with and without variables. Some of the former patterns have more than 300,000 occurrences. The longest pattern without a variable discovered from the whole ontology set has size 12, and it appears in 14 ontologies. To the best of our knowledge, this is the first method for automatic discovery of emerging design patterns in ontologies. Finally, we demonstrate that we are able to automatically detect patterns, for which we have manually confirmed that they are fragments of ontology design patterns described in the literature. Since our method is not specific to particular ontologies, we conclude that we should be able to discover new, emerging design patterns for arbitrary ontology sets.

SUBMITTER: Lawrynowicz A

PROVIDER: S-EPMC6261490 | biostudies-other | 2018

REPOSITORIES: biostudies-other

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Discovery of Emerging Design Patterns in Ontologies Using Tree Mining.

Ławrynowicz Agnieszka A Potoniec Jedrzej J Robaczyk Michał M Tudorache Tania T

Semantic web 20180629 4

The research goal of this work is to investigate modeling patterns that recur in ontologies. Such patterns may originate from certain design solutions, and they may possibly indicate emerging ontology design patterns. We describe our tree-mining method for identifying the emerging design patterns. The method works in two steps: (1) we transform the ontology axioms in a tree shape in order to find axiom patterns; and then, (2) we use association analysis to mine co-occuring axiom patterns in orde ...[more]

PMID: 30505251

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Project description:BackgroundVarious chromatin modifications, identified in large-scale epigenomic analyses, are associated with distinct phenotypes of different cells and disease phases. To improve our understanding of these variations, many computational methods have been developed to discover novel sites and cell-specific chromatin modifications. Despite the availability of existing methods, there is still room for further improvement when they are applied to resolve the histone code hypothesis. Hence, we aim to investigate the development of a computational method to provide new insights into de novo combinatorial pattern discovery of chromatin modifications to characterize epigenetic variations in distinct phenotypes of different cells.ResultsWe report a new computational approach, ChARM (Combinatorial Chromatin Modification Patterns using Association Rule Mining), that can be employed for the discovery of de novo combinatorial patterns of differential chromatin modifications. We used ChARM to analyse chromatin modification data from the livers of normal (non-cancerous) mice and hepatitis B virus X (HBx)-transgenic mice with hepatocellular carcinoma, and discovered 2,409 association rules representing combinatorial chromatin modification patterns. Among these, the combination of three histone modifications, a loss of H3K4Me3 and gains of H3K27Me3 and H3K36Me3, was the most striking pattern associated with the cancer. This pattern was enriched in functional elements of the mouse genome such as promoters, coding exons and 5'UTR with high CpG content, and CpG islands. It also showed strong correlations with polymerase activity at promoters and DNA methylation levels at gene bodies. We found that 30 % of the genes associated with the pattern were differentially expressed in the HBx compared to the normal, and 78.9 % of these genes were down-regulated. The significant canonical pathways (Wnt/ß-catenin, cAMP, Ras, and Notch signalling) that were enriched in the pattern could account for the pathogenesis of HBx.ConclusionsChARM, an unsupervised method for discovering combinatorial chromatin modification patterns, can identify histone modifications that occur globally. ChARM provides a scalable framework that can easily be applied to find various levels of combination patterns, which should reflect a range of globally common to locally rare chromatin modifications.

Project description:Advanced statistical methods used to analyze high-throughput data such as gene-expression assays result in long lists of "significant genes." One way to gain insight into the significance of altered expression levels is to determine whether Gene Ontology (GO) terms associated with a particular biological process, molecular function, or cellular component are over- or under-represented in the set of genes deemed significant. This process, referred to as enrichment analysis, profiles a gene-set, and is widely used to makes sense of the results of high-throughput experiments. The canonical example of enrichment analysis is when the output dataset is a list of genes differentially expressed in some condition. To determine the biological relevance of a lengthy gene list, the usual solution is to perform enrichment analysis with the GO. We can aggregate the annotating GO concepts for each gene in this list, and arrive at a profile of the biological processes or mechanisms affected by the condition under study. While GO has been the principal target for enrichment analysis, the methods of enrichment analysis are generalizable. We can conduct the same sort of profiling along other ontologies of interest. Just as scientists can ask "Which biological process is over-represented in my set of interesting genes or proteins?" we can also ask "Which disease (or class of diseases) is over-represented in my set of interesting genes or proteins?". For example, by annotating known protein mutations with disease terms from the ontologies in BioPortal, Mort et al. recently identified a class of diseases--blood coagulation disorders--that were associated with a 14-fold depletion in substitutions at O-linked glycosylation sites. With the availability of tools for automatic annotation of datasets with terms from disease ontologies, there is no reason to restrict enrichment analyses to the GO. In this chapter, we will discuss methods to perform enrichment analysis using any ontology available in the biomedical domain. We will review the general methodology of enrichment analysis, the associated challenges, and discuss the novel translational analyses enabled by the existence of public, national computational infrastructure and by the use of disease ontologies in such analyses.

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Discovery of Emerging Design Patterns in Ontologies Using Tree Mining.

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Discovery of Emerging Design Patterns in Ontologies Using Tree Mining.

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