Abstract
Epigenetics is the study of heritable changes in gene expression resulting from modifications in chromatin structure, without involving changes in the genetic information stored in DNA. In addition to their critical role in regulating cell differentiation and development, epigenetic modifications have also been linked to human diseases, most notably cancer. Epigenetic analyses often require the integration of disparate and heterogeneous data, often combining molecular biology and bioinformatic approaches. The fast development of high-throughput sequencing technologies has boosted epigenetic data production dramatically, posing challenges for information management that require innovative and efficient computational approaches. In this chapter, we review the data types most commonly used in epigenetic studies and the computational approaches for their integrative analysis, especially in the field of medicine. Additionally, online data resources and worldwide standardization consortia have established the purpose of optimizing the efficiency of epigenetics, with special emphasis given to the collective efforts in organizing and connecting molecular and clinical information.