One of the major questions in developmental biology is how the many different cell types that make up our bodies are derived from a single cell and from one DNA sequence, or genome. The identity of each cell is largely defined by an instructive layer of molecular annotations on top of the genome - the epigenome - which acts as a blueprint unique to each cell type and developmental stage. Unlike the genome the epigenome changes as cells develop and in response to changes in the environment. Defects in the factors that read, write, and erase the epigenetic blueprint are involved in many diseases including cancer. The comprehensive analysis of the epigenomes of healthy and malignant cells will facilitate new ways to diagnose and treat cancer, and ultimately lead to improved health outcomes.
Released in 2016, a collection of 41 coordinated papers published by scientists from across the International Human Epigenome Consortium (IHEC) sheds light on these processes taking global research in the field of epigenomics a major step forward. A set of 24 manuscripts has been released as a package in Cell and Cell Press-associated journals and an additional 17 papers have been published in other high-impact journals. Key research findings presented in the collection can be collated into four broad categories with a first group of papers presenting a series of molecular and computational approaches to deconvolute distinct epigenomic signatures from tissues that contain a mix of different cell types. A second group of publications highlights BLUEPRINT’s significant efforts and investments to develop new computational tools for the access, distribution, and sharing of epigenomic data via various channels to the community thus upholding the European Commission’s pledge to maximize open access to its funded research. In a third category, datasets produced by BLUEPRINT members were used to investigate molecular mechanisms underlying different cellular processes in normal and abnormal cell development. In the future, these analyses may help to target treatments to the right patients. A fourth group of papers in the collection uses epigenomic information to characterize how nuclear organization and genetic variants affect the expression of genes and how these genes in turn contribute to disease. The collection of manuscripts demonstrates how epigenetic information and analyses can help find answers to pressing questions related to the cellular mechanisms associated with complex human diseases. Stunnenberg of the Radboud University acted as Chair of the IHEC International Scientific Steering Committee and coordinated the EU-funded BLUEPRINT project. Various videos describing the project are available online.