All in Genetics

Sensitive detection of methylation patterns in cell-free DNA opens doors for early cancer detection

In the milieu of rushing blood, plasma, and cells, small wayward bits of DNA are easy to overlook. But stored within these scraps of genetic material, known as cell-free DNA (cfDNA), is information offering the earliest glimpses of cancer development. Being able to detect and understand these signals could dramatically improve our ability to detect and treat cancer before the disease has developed.

Using Massively Parallel Reporter Assays (MPRAs) to elucidate the function of genetic variation

98% of the human genome consists of non-protein-coding DNA, much of which has unknown functions. Nonetheless, noncoding DNA houses important genetic elements that can alter gene expression levels through genetic and epigenetic means, such as enhancers, silencers, promoters, and other so-called regulatory elements. The average protein-coding gene is governed by multiple non-coding regulatory elements whose activity can vary in a context-dependent manner, making it exceedingly difficult to both identify these elements and link them to the transcriptional activity of specific genes. Without a detailed understanding of these regulatory elements, potentially clinically relevant information coded within the growing influx of genetic data will remain undiscovered. To help convert data into knowledge, researchers are turning to Massively Parallel Reporter Assays (MPRAs).