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RESEARCH PRODUCT

Epigenetic biomarkers for disease diagnosis

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Abstract Epigenetic dysregulation plays an important role in the initiation and progression of human diseases; therefore, because of the dynamic nature of this orchestrated regulation of epigenetic marks and epigenetic mechanisms, it is possible to use these marks as biomarkers. In this context, an epigenetic biomarker is “any epigenetic mark or altered epigenetic mechanism” which generally serves to evaluate health or disease status, progression or treatment response and is particularly stable and reproducible during sample processing. Advances in precision medicine, with better diagnostic and treatment strategies are the hope to improve the management of diseases, comorbidities, and mortality. For this purpose, biomarker research and discovery, especially in the field of epigenetics, has increased in recent years. Adoption of high-throughput technologies, such as next-generation sequencing (NGS) and mass spectrometry (MS) into the clinical laboratory, together with the development of epigenetic biomarkers, will help to introduce new epigenetics-based in vitro diagnostic (IVD) tests, thus improving medical decisions. This chapter presents information on recent progress in epigenetic biomarkers, mainly DNA methylation and microRNAs, and those technologies more feasible to be implemented into clinical routine.