International Human Epigenome Consortium (IHEC) celebrates major coordinated paper release

IHEC scientists release collection of 41 publications in Cell, Cell Press-associated and other high-impact journals

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 processes underlying cell determination. The identity of each cell type 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 respond 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, and the United States. The collection of publications showcases the achievements and scientific progress made by IHEC in core areas of current epigenetic investigations.

Featured in this release are manuscripts from seven different Canadian-led or co-led studies:

1. Bourque, G. (2016a). “The International Human Epigenome Consortium (IHEC) Data Portal.” Cell Systems.
2. Bourque, G. (2016b). “Optimizing ChIP-seq peak detectors using visual labels and supervised machine learning.” Bioinformatics.
3. Hirst, M. (2016). “Nucleosome density ChIP-seq identifies distinct chromatin modification signatures of promoters associated with MNase accessibility.” Cell Reports.
4. Hirst, M., and Eaves, C. (2016). Analysis of normal human mammary epigenomes reveals cell-specific active enhancer states and associated transcription factor networks. Cell Reports.
5. Hirst, M., and Marra, M.A. (2016). Genome-Wide Profiles of Extra-cranial Malignant Rhabdoid Tumors Reveal Heterogeneity and Dysregulated Developmental Pathways. Cancer Cell 29, 394–406.
6. Joly, Y. (2016). “Are Data Sharing and Privacy Protection Mutually Exclusive?” Cell.
7. Pastinen, T. (2016). "Genetic drivers of epigenetic and transcriptional variation in human immune cells." Cell.

A key Canadian contribution to this initiative is the IHEC Data Portal. The Portal was developed and is housed in Canada, and is designed to integrate and distribute datasets produced by various IHEC member consortia. The Portal integrates a database and a graphical interface that currently hosts over 7,000 epigenomic datasets. It provides an overview of all the epigenome experiments produced by IHEC members, categorized by providers, tissue types and assay types. It also offers a dynamic grid that can be used to navigate through the datasets and provides links to either visualize the data in a genome browser or download it.

The Canadian Epigenetics, Environment and Health Research Consortium (CEEHRC) supports leading edge research on the role of DNA and environment interactions in human health and disease. This initiative will ensure that Canada plays a leadership role in the field of epigenetics by putting research discoveries into practice.

CEEHRC is in partnership with most of CIHR’s Institutes and is co-led by the Institutes of Neurosciences, Mental Health and Addiction; Genetics; and Cancer Research. External partners include Genome BC, Genome Quebec, Genome Canada, and Fonds de recherche Santé (FRQS), among others. CEEHRC is currently identifying and developing collaborations with funding organizations and stakeholders to enhance health research in this area.

At CIHR, we understand the power and potential of health research and the value of working collaboratively with domestic and international partnerships. The knowledge we produce together leads to healthier individuals, and a healthier world.