Accurate Detection of Methylated Cytosine in Complex Methylation Landscapes

摘要

Monitoring DNA methylation can be a useful biomarker for disease diagnosis and prognosis. However, monitoring the methylation status of a specific cytosine biomarker is often confounded by heterogeneous peripheral DNA methylation. To address this issue, molecular inversion probes were designed with inosine strategically positioned to complement suspected DNA methylation sites. This enabled the methylation status of a specific cytosine to be accurately measured with a high level of specificity, irrespective of adjacent epigenetic modifications.