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Updated: Oct 6, 2025

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
Published on: September 18, 2020
Experimental and Bioinformatic Approaches to Studying DNA Methylation in Cancer
Angelika Merkel1, Manel Esteller2,3,4,5
1Bioinformatics Unit, Josep Carreras Leukemia Research Institute (IJC), 08916 Barcelona, Spain.
Abstract:
DNA methylation is an essential epigenetic mark. Alterations of normal DNA methylation are a defining feature of cancer. Here, we review experimental and bioinformatic approaches to showcase the breadth and depth of information that this epigenetic mark provides for cancer research. First, we describe classical approaches for interrogating bulk DNA from cell populations as well as more recently developed approaches for single cells and multi-Omics. Second, we focus on the computational analysis from primary data processing to the identification of unique methylation signatures. Additionally, we discuss challenges such as sparse data and cellular heterogeneity.

