Rare genetic variation at transcription factor binding sites modulates local DNA methylation profiles

In conclusion, our findings not only provide insights into the effect of rare genetic variation at TFBS on shaping local DNA methylation and its consequences on genome regulation, but also provide a rationale to incorporate DNA methylation data to interpret the functional role of rare variants.

Source: PLoS Genetics - November 20, 2020 Category: Genetics & Stem Cells Authors: Alejandro Martin-Trujillo Source Type: research