Dataset Information

Gene Ontology Enrichment Improves Performances of Functional Similarity of Genes.

ABSTRACT: There exists a plethora of measures to evaluate functional similarity (FS) between genes, which is a widely used in many bioinformatics applications including detecting molecular pathways, identifying co-expressed genes, predicting protein-protein interactions, and prioritization of disease genes. Measures of FS between genes are mostly derived from Information Contents (IC) of Gene Ontology (GO) terms annotating the genes. However, existing measures evaluating IC of terms based either on the representations of terms in the annotating corpus or on the knowledge embedded in the GO hierarchy do not consider the enrichment of GO terms by the querying pair of genes. The enrichment of a GO term by a pair of gene is dependent on whether the term is annotated by one gene (i.e., partial annotation) or by both genes (i.e. complete annotation) in the pair. In this paper, we propose a method that incorporate enrichment of GO terms by a gene pair in computing their FS and show that GO enrichment improves the performances of 46 existing FS measures in the prediction of sequence homologies, gene expression correlations, protein-protein interactions, and disease associated genes.

SUBMITTER: Liu W

PROVIDER: S-EPMC6092333 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature

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Gene Ontology Enrichment Improves Performances of Functional Similarity of Genes.

Liu Wenting W Liu Jianjun J Rajapakse Jagath C JC

Scientific reports 20180814 1

There exists a plethora of measures to evaluate functional similarity (FS) between genes, which is a widely used in many bioinformatics applications including detecting molecular pathways, identifying co-expressed genes, predicting protein-protein interactions, and prioritization of disease genes. Measures of FS between genes are mostly derived from Information Contents (IC) of Gene Ontology (GO) terms annotating the genes. However, existing measures evaluating IC of terms based either on the re ...[more]

PMID: 30108262

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Project description:BACKGROUND:Biomedical ontologies have been growing quickly and proven to be useful in many biomedical applications. Important applications of those data include estimating the functional similarity between ontology terms and between annotated biomedical entities, analyzing enrichment for a set of biomedical entities. Many semantic similarity calculation and enrichment analysis methods have been proposed for such applications. Also, a number of tools implementing the methods have been developed on different platforms. However, these tools have implemented a small number of the semantic similarity calculation and enrichment analysis methods for a certain type of biomedical ontology. Note that the methods can be applied to all types of biomedical ontologies. More importantly, each method can be dominant in different applications; thus, users have more choice with more number of methods implemented in tools. Also, more functions would facilitate their task with ontology. RESULTS:In this study, we developed a Cytoscape app, named UFO, which unifies most of the semantic similarity measures for between-term and between-entity similarity calculation for all types of biomedical ontologies in OBO format. Based on the similarity calculation, UFO can calculate the similarity between two sets of entities and weigh imported entity networks as well as generate functional similarity networks. Besides, it can perform enrichment analysis of a set of entities by different methods. Moreover, UFO can visualize structural relationships between ontology terms, annotating relationships between entities and terms, and functional similarity between entities. Finally, we demonstrated the ability of UFO through some case studies on finding the best semantic similarity measures for assessing the similarity between human disease phenotypes, constructing biomedical entity functional similarity networks for predicting disease-associated biomarkers, and performing enrichment analysis on a set of similar phenotypes. CONCLUSIONS:Taken together, UFO is expected to be a tool where biomedical ontologies can be exploited for various biomedical applications. AVAILABILITY:UFO is distributed as a Cytoscape app, and can be downloaded freely at Cytoscape App (http://apps.cytoscape.org/apps/ufo) for non-commercial use.

Project description:BackgroundThe Gene Ontology (GO) is a dynamic, controlled vocabulary that describes the cellular function of genes and proteins according to tree major categories: biological process, molecular function and cellular component. It has become widely used in many bioinformatics applications for annotating genes and measuring their semantic similarity, rather than their sequence similarity. Generally speaking, semantic similarity measures involve the GO tree topology, information content of GO terms, or a combination of both.ResultsHere we present a new semantic similarity measure called TopoICSim (Topological Information Content Similarity) which uses information on the specific paths between GO terms based on the topology of the GO tree, and the distribution of information content along these paths. The TopoICSim algorithm was evaluated on two human benchmark datasets based on KEGG pathways and Pfam domains grouped as clans, using GO terms from either the biological process or molecular function. The performance of the TopoICSim measure compared favorably to five existing methods. Furthermore, the TopoICSim similarity was also tested on gene/protein sets defined by correlated gene expression, using three human datasets, and showed improved performance compared to two previously published similarity measures. Finally we used an online benchmarking resource which evaluates any similarity measure against a set of 11 similarity measures in three tests, using gene/protein sets based on sequence similarity, Pfam domains, and enzyme classifications. The results for TopoICSim showed improved performance relative to most of the measures included in the benchmarking, and in particular a very robust performance throughout the different tests.ConclusionsThe TopoICSim similarity measure provides a competitive method with robust performance for quantification of semantic similarity between genes and proteins based on GO annotations. An R script for TopoICSim is available at http://bigr.medisin.ntnu.no/tools/TopoICSim.R .

Dataset Information

Gene Ontology Enrichment Improves Performances of Functional Similarity of Genes.

Publications

Gene Ontology Enrichment Improves Performances of Functional Similarity of Genes.

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