Liquid biopsy represents a groundbreaking advancement in disease diagnostics, offering a less invasive alternative to traditional tissue biopsies, particularly for cancer.
Our study investigates the roles of 5‑methylcytosine (5mC) and 5‑hydroxymethylcytosine (5hmC) as biomarkers for early-stage colorectal cancer (CRC) detection in cell-free DNA (cfDNA).
The utilisation of genetic biomarkers in liquid biopsy has caused a revolution in cancer diagnostics and personalised medicine.
Here we show that the combination of resolved methylation and genomic data combined with machine-learning can generate accurate inference of gene expression (both steady-state and nascent), chromatin accessibility, and enhancer state, demonstrating the key role of 5mC and 5hmC in gene regulation.
Here we present duet evoC: an enzymatic method that reads the four canonical bases in DNA together with complete epigenetic information encoded in DNA – as applied to single cells.
This study shows that 5mC and 5hmC taken together are highly effective as biomarkers for early-stage CRC detection in cfDNA.
histone modifications play a crucial role in regulating gene expression and chromatin structure. These modifications work together in complex patterns to fine-tune cellular processes.
“Our goal is to provide researchers and liquid biopsy clinical test developers with innovative tools that enable them to reveal previously undetectable biological changes,”
By analysing the unique fragmentation patterns of cfDNA, researchers are unlocking new possibilities for early disease detection, including cancer and prenatal testing. This cutting-edge field combines insights from epigenetics and nucleosome positioning to develop sensitive diagnostic tools that could transform healthcare.
Discover the fascinating world of epigenetics, where our genes are influenced not only by our DNA but also by our environment.
