Background Recent assays for individual-specific genome-wide DNA methylation profiles
have enabled epigenome-wide association studies to identify specific CpG sites associated …

Alterations in epigenetic landscapes are hallmarks of many complex human diseases, yet, it
is often challenging to assess the underlying mechanisms and causal link with clinical …

DNA methylation is an epigenetic mark linking DNA sequence and transcription regulation,
and therefore plays an important role in phenotypic plasticity. The ideal whole genome …

DNA methylation primarily occurs at CpG dinucleotides in mammals and is a common
epigenetic mark that plays a critical role in the regulation of gene expression. Profiling DNA …

DNA methylation plays an important role in development and disease. The primary sites of
DNA methylation in vertebrates are cytosines in the CpG dinucleotide context, which …

DNA methylation is involved in development and in human diseases. Genomic DNA derived
from lymphoblastoid cell lines (LCLs) is commonly used to study DNA methylation. There …

Background Gene expression can be influenced by DNA methylation 1) distally, at
regulatory elements such as enhancers, as well as 2) proximally, at promoters. Our current …

5-methyl-cytosines at CpG sites frequently mutate into thymines, accounting for a large
proportion of spontaneous point mutations. The repair system would leave substantial …

Background Epigenetic polymorphisms are a potential source of human diversity, but their
frequency and relationship to genetic polymorphisms are unclear. DNA methylation, an …

High-dimensional omics datasets provide valuable resources to determine the causal role of
molecular traits in mediating the path from genotype to phenotype. Making use of molecular …