Functional enrichment analysis or pathway enrichment analysis (PEA) is a bioinformatics technique which identifies the most over-represented biological pathways in a list of genes compared to those that would be associated with them by chance. These biological functions are found on bioinformatics annotated databases such as The Gene Ontology or KEGG; the more abundant pathways are identified through statistical techniques such as Fisher's exact test. All PEA tools require a list of genes as input. A few tools, however, read lists of genomic regions as input rather than lists of genes, and first associate these chromosome regions with their corresponding genes. These tools perform a procedure called genomic regions enrichment analysis, which can be useful for detecting the biological pathways related to a set of chromosome regions. In this brief survey, we analyze six tools for genomic regions enrichment analysis (BEHST, g:Profiler g:GOSt, GREAT, LOLA, Poly-Enrich, and ReactomePA), outlining and comparing their main features. Our comparison results indicate that the inclusion of data for regulatory elements, such as ChIP-seq, is common among these tools and could therefore improve the enrichment analysis results.

Chicco, D., Jurman, G. (2022). A brief survey of tools for genomic regions enrichment analysis. FRONTIERS IN BIOINFORMATICS, 2, 1-7 [10.3389/fbinf.2022.968327].

A brief survey of tools for genomic regions enrichment analysis

Chicco, D
;
2022

Abstract

Functional enrichment analysis or pathway enrichment analysis (PEA) is a bioinformatics technique which identifies the most over-represented biological pathways in a list of genes compared to those that would be associated with them by chance. These biological functions are found on bioinformatics annotated databases such as The Gene Ontology or KEGG; the more abundant pathways are identified through statistical techniques such as Fisher's exact test. All PEA tools require a list of genes as input. A few tools, however, read lists of genomic regions as input rather than lists of genes, and first associate these chromosome regions with their corresponding genes. These tools perform a procedure called genomic regions enrichment analysis, which can be useful for detecting the biological pathways related to a set of chromosome regions. In this brief survey, we analyze six tools for genomic regions enrichment analysis (BEHST, g:Profiler g:GOSt, GREAT, LOLA, Poly-Enrich, and ReactomePA), outlining and comparing their main features. Our comparison results indicate that the inclusion of data for regulatory elements, such as ChIP-seq, is common among these tools and could therefore improve the enrichment analysis results.
Articolo in rivista - Review Essay
bioinformatics; functional annotations; functional enrichment analysis; genomic regions enrichment analysis; pathway enrichment analyses
English
26-ott-2022
2022
2
1
7
968327
open
Chicco, D., Jurman, G. (2022). A brief survey of tools for genomic regions enrichment analysis. FRONTIERS IN BIOINFORMATICS, 2, 1-7 [10.3389/fbinf.2022.968327].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/435422
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