CeGaT GmbH is a provider of genetic diagnostics and NGS services for research and pharma customers. One big part of our diagnostic offerings is tumor diagnostics. In recent years, analyses starting from formalin-fixed or fresh frozen tumor tissue samples were complemented by analyses starting from cell-free DNA extracted from patient blood plasma obtained in "liquid biopsies". These samples have several benefits for non-invasive monitoring. But they pose significant technical challenges as the amount of material is typically low and the percentage of tumor DNA in the total cell-free DNA fraction very low (<10%). Special wet-lab protocols and bioinformatics algorithms are required to provide sensitivity at these low amounts and allele frequencies. End-to-end validation of these processes is essential to ascertain performance characteristics such as specificity and sensitivity. However, such validations require well-defined control samples. This talk will cover the difficulties labs face when trying to establish such standards on their own, we will share our experience with a publicly available standard, present validation results and discuss some caveats.  

DNA methylation is an essential epigenetic modification that influences the control of gene expression. Anomalies in this process can lead to genomic instabilities or issues with transcriptional silencing, which can result in various diseases such as cancer, diabetes, cardiovascular disease, and various inflammatory conditions. Scientists must therefore access the right tools to effectively study a given sample’s DNA methylation status and better understand genome-wide methylation patterns.