The NIH Roadmap Epigenomics Consortium has generated the largest collection of human reference epigenomes by profiling histone modifications, chromatin accessibility, DNA methylation and RNA expression in 100s of diverse human primary cells and tissues.

In this interactive workshop, we will introduce the audience to the entire compendium of primary and processed data as well as integrative analysis products via the Roadmap portal. These include combinatorial chromatin state maps, global maps of high-resolution cell-type and tissue-specific regulatory elements, higher-order regulatory modules of coordinated activity, their likely activators and repressors and predicted tissue-specific long-range regulatory interactions between enhancers and their target promoters.

We will show how to create highly customizable visualization sessions on the versatile Epigenome Browser. We will also provide a brief introduction to the data analysis methods and tools used for create the resource. Finally we will display the power of this resource for interpreting the molecular basis of human disease. Using specific case studies, we will show how to use the reference regulatory maps to predict target cell types, regulatory elements and target genes affected by disease- and trait-associated non-coding genetic variants.

Anshul Kundaje is an Assistant Professor of Genetics and Computer Science at Stanford University. His primary research area is large-scale computational regulatory genomics. He specializes in developing statistical and machine learning methods for large-scale integrative analysis of heterogeneous, high-throughput functional genomic and genetic data to decipher regulatory architecture of the genome and complex diseases. Anshul has been the lead computational analyst of the Enyclopedia of DNA Elements (ENCODE) and Roadmap Epigenomics Projects. Anshul is also a recipient of the 2014 Alfred Sloan Fellowship.