The Human Epigenome Project (HEP) aims to identify, catalogue and interpret genome-wide DNA methylation patterns of all human
genes in all major tissues. Methylation is the only flexible genomic parameter that can change genome function under exogenous
influence. Hence it constitutes the main and so far missing link between genetics, disease and the environment that is widely
thought to play a decisive role in the aetiology of virtually all human pathologies. Methylation occurs naturally on cytosine
bases at CpG sequences and is involved in controlling the correct expression of genes. Differentially methylated cytosines give
rise to distinct patterns specific for tissue type and disease state. Such methylation variable positions (MVPs) are common
epigenetic markers. Like single nucleotide polymorphisms (SNPs), they promise to significantly advance our ability to understand
and diagnose human disease.
The Human Epigenome Project (HEP) is a public/private collaboration run by the members of the Human Epigenome Consortium.
MVPs identified as part of the HEP will be released publicly in accordance with the HEP data release policy.