biomodal is a proud sponsor of the 2025 VAI Epigenetics Symposium, which will feature the latest advances at the intersection of epigenetics and structural biology. The outstanding roster of speakers will highlight:
Field Application Scientist
biomodal
Early detection of colorectal cancer (CRC) has the potential to improve treatment outcomes and survival rates. Liquid biopsy for profiling of cell free DNA (cfDNA) in blood holds huge promise for early CRC detection in otherwise asymptomatic patients.
Epigenetic biomarkers have already been shown to significantly contribute to cancer detection in liquid biopsies, but traditional DNA methylation sequencing conflates two cytosine modifications, 5-methylcytosine (5mC) or 5-hydroxymethylcytosine (5hmC), with different and opposing biological functions. Discrimination of these two states could therefore be crucial for increasing the amount of functional information for CRC detection.
We therefore employed duet evoC, a biomodal technology that provides the 6-base genome (the complete genetic sequence whilst simultaneously distinguishing 5mC and 5hmC), to cfDNA obtained from a cohort of 32 healthy volunteers and 37 patients with CRC at stages I and IV. Through machine learning approaches, we built classifiers to differentiate between cfDNA from patients with stage I CRC and individuals without cancer using features based 5mC alone, 5hmC alone, both 5mC and 5hmC, or the conflated 5mC/5hmC (modC, as it would be generated by traditional epigenetic technologies).
Our findings indicate that combining measurements of 5mC and 5hmC significantly enhances diagnostic accuracy (AUC = 0.95) compared to traditional approaches that conflate these markers. Notably, 71.7% of differentially methylated regions (DMRs) exhibiting an increase in 5hmC in stage I cfDNA also showed a corresponding decrease in 5mC in stage IV, suggesting that 5hmC can effectively track regions of demethylation during tumour development.
These results support the hypothesis that distinguishing between 5mC and 5hmC can improve the sensitivity of liquid biopsy tests for early cancer detection.
Here are the relevant biomodal resources for information. Find poster presentation information, case studies, interviews, and more.
Unlock the power of the 6-base genome with duet evoC data, providing unprecedented insight, including A, C, G, T plus 5mC and 5hmC, in a single read. Learn more
To address the difficulties of analysing methylation data, this poster presents modality, an efficient and scalable analysis package for 5- and 6-base genomes.
FFPE cancer samples are an incredibly important and clinically relevant information source for directly studying the causes and consequences of the disease. This technical note shows how duet evoC can identify DNA methylation markers from FFPE samples.
The 6-base genome expands our understanding of genetics by incorporating both genetic & epigenetic data to get a clearer picture of health and disease biology.
Generating multiomic data from as little as 5ng of cfDNA that can be used to identify SNPs, CNVs, differentially methylated regions (DMRs), and variant associated methylation (VAM). Using these techniques, methods to identify new potential biomarkers and fragment length profiles are also discussed.
