Epigenetic Biomarker Discovery

Epigenetic biomarker discovery is the identification of heritable or stable changes in gene regulation that indicate biological states, disease risk, treatment response, or prognosis without altering the DNA sequence. Researchers analyze features such as DNA methylation, histone modifications, and chromatin accessibility using sequencing or other molecular assays, then link reproducible patterns to gene expression and clinical or genetic traits. In genetics, these biomarkers help clarify how environmental exposures and developmental processes influence phenotype, support disease classification, and guide precision medicine. Rigorous validation across tissues, populations, and experimental conditions is essential before candidate markers can inform diagnosis, monitoring, or therapeutic decisions.

Epigenetic Biomarker Discovery - Related Videos

Education

JoVE Science Education - Advanced Biology

An Overview of Epigenetics

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2023

Since the early days of genetics research, scientists have noted certain heritable phenotypic differences that are not due to differences in the nucleotide sequence of DNA. Current evidence suggests that these “epigenetic” phenomena might be controlled by a number of mechanisms, including the modification of DNA cytosine bases with methyl groups, the addition of various chemical groups to histone proteins, and the recruitment of protein factors to specific DNA sites via interactions with...

Research

JoVE Journal - Medicine
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Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer

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Cited by 16 •

2013

Human endogenous retroviruses (HERV), which occupy 8% of the human genome, retain scarce coding capacities but a hundred thousand long terminal repeats (LTRs). A custom Affymetrix microarray was designed to identify individual HERV locus expression and was used on prostate cancer tissues as a proof of concept for future clinical studies.

Measuring Single-Cell Aging with an Imaging-based Biomarker of Chromatin and Epigenetic Aging

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2026

The protocol presents the imaging and computational workflow to extract and validate imaging-based chromatin and epigenetic age (ImAge).

Low Molecular Weight Protein Enrichment on Mesoporous Silica Thin Films for Biomarker Discovery

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Cited by 11 •

2012

We developed a technology based on mesoporous silica thin film for the selective recovery of low molecular weight proteins and peptides from human serum. The physico-chemical properties of our mesoporous chips were finely tuned to provide substantial control in peptide enrichment and consequently profile the serum proteome for diagnostic purposes.

Epigenetic Regulation

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2019

Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer. In most mammals, females have two X chromosomes (XX) while males have an X and a Y chromosome (XY). The X chromosome contains significantly more genes than the Y chromosome. Therefore, to prevent an excess of X chromosome-linked gene expression in females, one of the two X chromosomes is randomly silenced during early development.

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