A2 Refereed review article in a scientific journal

Making Sense of the Epigenome Using Data Integration Approaches




AuthorsCazaly Emma, Saad Joseph, Wang Wenyu Y., Heckman Caroline, Ollikainen Miina, Tang Jing

PublisherFRONTIERS MEDIA SA

Publication year2019

JournalFrontiers in Pharmacology

Journal name in sourceFRONTIERS IN PHARMACOLOGY

Journal acronymFRONT PHARMACOL

Article numberARTN 126

Volume10

Number of pages15

ISSN1663-9812

DOIhttps://doi.org/10.3389/fphar.2019.00126

Web address https://www.frontiersin.org/articles/10.3389/fphar.2019.00126/full

Self-archived copy’s web addresshttps://research.utu.fi/converis/portal/detail/Publication/39606957


Abstract
Epigenetic research involves examining the mitotically heritable processes that regulate gene expression, independent of changes in the DNA sequence. Recent technical advances such as whole-genome bisulfite sequencing and affordable epigenomic array-based technologies, allow researchers to measure epigenetic profiles of large cohorts at a genome-wide level, generating comprehensive high-dimensional datasets that may contain important information for disease development and treatment opportunities. The epigenomic profile for a certain disease is often a result of the complex interplay between multiple genetic and environmental factors, which poses an enormous challenge to visualize and interpret these data. Furthermore, due to the dynamic nature of the epigenome, it is critical to determine causal relationships from the many correlated associations. In this review we provide an overview of recent data analysis approaches to integrate various omics layers to understand epigenetic mechanisms of complex diseases, such as obesity and cancer. We discuss the following topics: (i) advantages and limitations of major epigenetic profiling techniques, (ii) resources for standardization, annotation and harmonization of epigenetic data, and (iii) statistical methods and machine learning methods for establishing data-driven hypotheses of key regulatory mechanisms. Finally, we discuss the future directions for data integration that shall facilitate the discovery of epigenetic-based biomarkers and therapies.

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