Novel solution distinguishes 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) revealing unprecedented insights into current and future states of disease using one 5ng DNA sample
biomodal, an omics-based life sciences technology and analytics company, announced it is delivering the 6-base genome to customers with the launch of duet multiomics solution evoC (duet evoC). The combinatorial genetic and epigenetic technology provides single-base-resolution sequencing data that reveals standard four-base sequencing (A, G, C, and T), and distinguishes between 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC), on the same DNA molecule. This added resolution will allow greater power in detecting disease associations, identifying novel biomarkers, developing disease classifiers, and monitoring the progression of disease; even with limited samples such as cell-free DNA (cfDNA).
The advanced 6-base genome data enables the exploration of epigenetic mechanisms of gene regulation through methylation and hydroxymethylation. Researchers now are able to obtain an accurate measurement of 5mC and 5hmC, integrated into local genetic context, with >95% of bases above Q30 and 50% with accuracy above Q40. By measuring multiple modes of biology from a single low-input DNA sample in a single experiment, researchers can use the comprehensive data to build predictive models of gene expression, chromatin accessibility, and enhancer status to better understand the biological mechanisms that link genotype to phenotype.
biomodal has also deposited the world’s first publicly available 6-base genome via the GEO database and used this data, generated from mouse embryonic stem cells, to build models that demonstrate its potential to predict the results of standard and nascent RNA-seq, as well as ATAC-seq experiments. Currently, multiple samples, different workflows and numerous data sets are required to gain this level of multiomic information, often leading to unanswered questions and the potential for errors. duet evoC’s integrated data and analysis software enables a streamlined workflow from sample to analysis-ready data with built-in error suppression, simplifying interpretation and facilitating answers.
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“Delivering the 6-base genome with the launch of duet evoC is a revolutionary development for researchers in the fields of oncology, neurology, ageing, and functional genomics. duet evoC is advancing our mission to help scientists reveal new data and insights that will evolve solutions for early disease detection, treatment, and monitoring,” said Peter Fromen, chief executive officer at biomodal.
Dr. Alex Bick, M.D., Ph.D., assistant professor of medicine, Division of Genetic Medicine at the Vanderbilt University Medical Center, is demonstrating the utility of duet evoC to study pre-cancerous mutations. “Unlocking new capabilities is crucial to better understanding the genome because the pre-cancerous mutations that we study are in genes that affect methylation and hydroxymethylation. Being able to simultaneously read both the germline genetic variance and methylation helps us understand where the methylation is happening, which provides us with a better idea of how these inherited genetic variants may shape the pre-cancer. The information you get is not possible to recapitulate with multiple assays, which makes this technology incredibly valuable to our research.”
At Advances in Genome Biology and Technology (AGBT), biomodal will showcase seminal data that demonstrates the efficacy of the 6-base genome for understanding tumour biology from liquid biopsy. With duet evoC, the company was able to distinguish between stage I colorectal cancer samples and healthy controls in enhancer regions that the literature cites as associated with cancer.
Professor Samuel Aparicio, (BM, BCh, Ph.D., FRCPath, FRSC), University of British Columbia distinguished scholar, head of molecular oncology research at British Columbia Cancer Research in Vancouver, Canada said, “Accessing the 6-base genome and relating methylation and hydroxymethylation to specific variants in our breast cancer work could increase the sensitivity for ctDNA detection in liquid biopsy, enabling earlier detection. We also see promise in the ability of these methylation marks to determine gene expression, chromatin accessibility and gene regulation, and look forward to exploring this potential with the biomodal team.”
SOURCE: BusinessWire
