BLUEPRINT scientists release a collection of 26 publications in Cell, Cell Press-associated and other high-impact journals. These are part of a package of 41 publications by the International Human Epigenome Consortium (IHEC) of which BLUEPRINT is a member.
One of the great mysteries in 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. We have learned a lot from studying the human genome, but have only partially unveiled the process underlying cell determination. The identify 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. The comprehensive analysis
of the epigenomes of healthy and abnormal cells will facilitate new ways to diagnose and treat various diseases, and ultimately lead to improved health outcomes.
A collection of 41 coordinated papers now 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.
These papers represent the most recent work of IHEC member projects from Canada, the European Union, Germany, Japan, Singapore, South Korea, and the United States. The collection of publications showcases the achievements and scientific progress made by IHEC in core areas of current epigenetic investigations.
“The collection of manuscripts impressively demonstrates how epigenetic information and analyses can help find answers to pressing questions related to the cellular mechanisms associated with complex human diseases”, said Professor Hendrik (Henk) Stunnenberg from Radboud University, The Netherlands, former Chair of the IHEC International Scientific Steering Committee and coordinator of the EU-funded BLUEPRINT project.
In a Nutshell: Key Findings from the Collection of Papers
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 maximise 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. These analyses may in future help doctors to target the right 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.
“BLUEPRINT has produced more new science and more understanding of blood cell disease than we could have imagined at the outset,” “We have made the data of >1000 datasets publicly available” says Henk Stunnenberg. “Moreover, we have forged an alliance of researchers and innovative companies from around Europe and, working closely