American Society of Human Genetics 2014

Workshop at 2014 ASHG: Epigenomic Annotation of Genetic Variants Using The Washington University Epigenome Browser.

  • Description
  • Advances in next-generation sequencing technology have reshaped the landscape of genomic and epigenomic research as well as human genetics studies. Annotating the non-coding, regulatory genome with genomic and epigenomic data has provided new venues to interpret the functional consequences of genetic variants associated with human complex traits. Large consortiums such as ENCODE and Roadmap Epigenomics project have generated tens of thousands sequencing-based genome-wide datasets, creating a reference and resource for the scientific community. There is a great need for investigators to effectively engage with this resource in the context of analyzing investigators’ own data.

    This interactive workshop will introduce The WashU Human Epigenome Browser and associated tools ( The Epigenome Browser hosts ENCODE data and Human Epigenome Atlas data produced by the Roadmap Epigenomics project, and support navigation of the data and its interactive visualization, integration, comparison, and analysis. Attendees will gain hands-on experience with exploring the most current epigenomic resources, and with advanced visual-bioinformatics tools including gene set view, genome juxtaposition, and chromatin-interaction display, inventions unique to the WashU Epigenome Browser. Through specific examples the workshop will demonstrate the power of annotating genetic variants with epigenomic data, and how it can be easily achieved with the Epigenome Browser.

  • Online handbook
  • MoPad: real-time chat support and data for workshop.
  • Handouts
    • WashU EpiGenome Browser Demo Handout: view online or download PDF version
    • EDC locus: chr1:151880250-153605000

      Session ID: ddSQFzBWvS

    • WashU Roadmap Browser Demo Handout: view online or download PDF version
    • SNP coordinates for this demo: (show the full spreadsheet here)

      chr1 10353111 10353112
      chr1 85772008 85772009
      chr1 93303602 93303603
      chr1 101331535 101331536
      chr1 101407518 101407519
      chr1 117038286 117038287
      chr1 117100956 117100957
      chr1 117104214 117104215
      chr1 179469313 179469314
      chr10 6099044 6099045
      chr10 6102011 6102012
      chr10 6110828 6110829
      chr10 43814048 43814049
      chr10 81036006 81036007
  • Complete Workshop in Video