The human genome contains about 3 billion base pairs, or ‘letters’ of genetic code. This may seem big, but it is dwarfed by the staggering size and complexity of the machinery that controls it. The ‘epigenome’ is a vast, churning sea of chemical changes that determine where and when different parts of the genome are turned on or off.
That switching action helps determine, for example, whether a cell becomes an oxygen-carrying red blood cell or a pathogen-fighting immune cell.
Just think for a minute about how monumental that is. Now consider that the epigenome changes all the time, influencing how cells respond to their environment.
The epigenome does a lot more than just switch sets of genes on and off at just the right times – it also has to keep the machinery that reads, writes and erases information running smoothly. Defects in these read/write/erase factors are often associated with disease, so a there is a lot of research happening in this area now.
“Anyone can explore the BLUEPRINT data,” explains Laura Clarke of EMBL-EBI, who manages data for the project. “It’s already allowing us to see up close how different blood cells differentiate. What’s really exciting is how it’s giving us this extensive, detailed picture of how the whole genome reorganises itself to influence cells as their environment changes.”
Read an article on the NIH website, "What is the epigenome, and what does it do?"
Read about the BLUEPRINT project in our article, "Blood, Big Data and Epigenetics"
Edit