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"Reference Materials for the Analysis of Methylation in Circulating Cell-Free DNA"

Epigenetic modifications such as methylation influence cellular differentiation and gene expression. Liquid biopsies are starting to screen for cancer-derived DNA by looking for unexpected epigenetic modifications in circulating cell-free DNA (ccfDNA) that could also be used to assign a tissue of origin to the cancer to direct confirmatory diagnostic procedures.

However, because of the low abundance of ccfDNA, obtaining sufficient amounts for assay development, validation, and proficiency testing are difficult. Furthermore, methods of analyzing the epigenetic modifications, such as bisulfite conversion, can damage a significant fraction of the input material; but, failing to carry them out to completion can result in an overestimation of methylation. This makes method optimization very important.

This poster from LGC SeraCare describes the creation and validation of circulating cell-free DNA reference materials with defined amounts of methylation to address the challenges associated with assessing the methylation of circulating cell-free DNA.

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