EACR 2024 Annual Congress: Innovative Cancer Science

High-level introduction into how 6-base genome data can be used to build models that accurately predict gene expression, chromatin accessibility, and enhancer status.

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Liquid biopsy for profiling cell free DNA (cfDNA) holds huge promise to transform how we detect and identify cancer, and track residual disease.  However, a standard blood draw yields only ~10 ng of cfDNA, of which circulating tumour DNA is a minority. Obtaining maximum information from limited samples is, therefore, crucial. Standard genetic sequencing can only provide actionable mutation information at limited loci. Including epigenetic variation at single-base resolution, by measuring 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC), provides the ability to probe more loci and could enable more sensitive liquid biopsy assays from cfDNA.

This poster explores the challenges and opportunities associated with extracting high-quality genomic and epigenomic data from formalin-fixed and paraffin-embedded (FFPE) specimens commonly used in research and clinical settings. Using evoC solution, We demonstrate the feasibility of obtaining accurate genetic information as well as distinguishing between 5mC and 5hmC from FFPE cancer samples.