New insights into how genetic variants influence disease risk

Scientists at deCODE Genetics have observed that sequence variants are responsible for the link between DNA methylation and gene expression, and these variants can also be associated with various disease traits. Using a nanopore sequencing technology developed by Oxford Nanopore Technology, they could directly measure DNA methylation and read long DNA sequences. Their findings, published in Nature Genetics, enhance understanding of how noncoding sequence variants contribute to disease progression.