Studies of DNA methylation (DNAm) in solid human tissues are relatively scarce; tissue-
specific characterization of DNAm is needed to understand its role in gene regulation and its …

Characterizing genetic influences on DNA methylation (DNAm) provides an opportunity to
understand mechanisms underpinning gene regulation and disease. In the present study …

Multiple recent studies highlight that genetic variants can have strong impacts on a
significant proportion of the human DNA methylome. Methylation quantitative trait loci, or …

We determined the relationships between DNA sequence variation and DNA methylation
using blood samples from 3,799 Europeans and 3,195 South Asians. We identify …

Understanding the diversity of human tissues is fundamental to disease and requires linking
genetic information, which is identical in most of an individual's cells, with epigenetic …

Background Genetic influence on DNA methylation is potentially an important mechanism
affecting individual differences in humans. We use next-generation sequencing to assay …

Background Individual genotypes at specific loci can result in different patterns of DNA
methylation. These methylation quantitative trait loci (meQTLs) influence methylation across …

Characterizing the complex relationship between genetic, epigenetic, and transcriptomic
variation has the potential to increase understanding about the mechanisms underpinning …

Background DNA epigenetic modifications, such as methylation, are important regulators of
tissue differentiation, contributing to processes of both development and cancer. Profiling the …

Most genetic variants identified in genome-wide association studies (GWASs) of complex
traits are thought to act by affecting gene regulation rather than directly altering the protein …