EpiATLAS - a reference for human epigenomic research

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Abstract
The sequence of the human genome provides a foundation for understanding cellular processes in health and disease. The organisation of this primary genetic information into cell-specific structure and function is critical to understanding the cell type-specific interpretation and execution of the genome. Epigenetic processes are essential for packaging and higher-level functional organisation of the genome, and changes therein are increasingly recognised as contributors to human disease. Building on primary data generated by multinational consortia, the International Human Epigenome Consortium (IHEC) has uniformly processed a collection of more than 2000 comprehensive human reference epigenomes, collectively referred to as EpiATLAS. This effort involved the development of standardised molecular and bioinformatics protocols, metadata models, and analytical tools to manage, integrate, display, and share vast amounts of epigenomic data. This includes the creation of a publicly available Epigenome Reference Registry, which provides a system for accessing protected human subject datasets and facilitates open searching of de-identified samples and experimental data. The integrated EpiATLAS ecosystem and its comprehensive human reference epigenome maps provide an unprecedented resource for the biosciences, expanding the annotated epigenomic landscape while uncovering previously unappreciated relationships among regulatory layers and revealing how epigenetic inputs underpin fundamental cellular functions and disease associations.
Funding Information
  • Genome British Columbia (C32EMT)
  • Genome British Columbia (C41EMT)
  • Canadian Institutes of Health Research (EP1-120589)
  • Canadian Institutes of Health Research (CEE-151619)
  • Canadian Institutes of Health Research (PJT-175218)
  • Canadian Epigenetics, Environment and Health Research Consortium Network (CIHR-262119)
  • Canadian Epigenetics, Environment and Health Research Consortium Network (EPT-165702)
  • FEDER/Spanish Ministry of Science and Innovation (PID2023-148272OB-I00)
  • Wellcome Trust for the Ensembl Project (222155/Z/20/Z)
  • Wellcome Trust for the Ensembl Project (226083/Z/22/Z)
  • Wellcome Trust for the Ensembl Project (226458/Z/22/Z)
  • European Commission (733161)
  • European Commission (733100)
  • German Centre for Cardiovascular Research (81Z0200101)
  • German Centre for Cardiovascular Research (81Z0200113)
  • Cardio-Pulmonary Institute (390649896)
  • Hessian Center for Artificial Intelligence
  • Natural Sciences and Engineering Research Council (NSERC) of Canada (435710)
  • Calcul Québec
  • UCLA Office of Advanced Research Computing’s Research Technology Group
  • Mammouth computing infrastructure of the Université de Sherbrooke
  • Hong Kong Epigenome Project (Lo Ka Chung Charitable Foundation)
  • Hong Kong Research Grant Council (GRF16104122)
  • Hong Kong Research Grant Council (GRF16102124)
  • Croucher Innovation Award
  • Fondation du Pélican de Mie et Pierre Hippert-Faber
  • ELIXIR-DE (de.NBI) (W-de.NBI-021)

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