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EpiMethEx: a tool for large-scale integrated analysis in methylation hotspots linked to genetic regulation.

Authors :
Candido, Saverio
Parasiliti Palumbo, Giuseppe Alessandro
Pennisi, Marzio
Russo, Giulia
Sgroi, Giuseppe
Di Salvatore, Valentina
Libra, Massimo
Pappalardo, Francesco
Source :
BMC Bioinformatics; 2/4/2019 Supplement 13, Vol. 19 Issue 13, p43-53, 11p, 1 Diagram, 3 Graphs
Publication Year :
2019

Abstract

Background: DNA methylation is an epigenetic mechanism of genomic regulation involved in the maintenance of homeostatic balance. Dysregulation of DNA methylation status is one of the driver alterations occurring in neoplastic transformation and cancer progression. The identification of methylation hotspots associated to gene dysregulation may contribute to discover new prognostic and diagnostic biomarkers, as well as, new therapeutic targets. Results: We present EpiMethEx (Epigenetic Methylation and Expression), a R package to perform a large-scale integrated analysis by cyclic correlation analyses between methylation and gene expression data. For each gene, samples are segmented according to the expression levels to select genes that are differentially expressed. This stratification allows to identify CG methylation probesets modulated among gene-stratified samples. Subsequently, the methylation probesets are grouped by their relative position in gene sequence to identify wide genomic methylation events statically related to genetic modulation. Conclusions: The beta-test study showed that the global methylation analysis was in agreement with scientific literature. In particular, this analysis revealed a negative association between promoter hypomethylation and overexpression in a wide number of genes. Less frequently, this overexpression was sustained by intragenic hypermethylation events. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
14712105
Volume :
19
Issue :
13
Database :
Complementary Index
Journal :
BMC Bioinformatics
Publication Type :
Academic Journal
Accession number :
134549265
Full Text :
https://doi.org/10.1186/s12859-018-2397-6