Genomics and Epigenetics

The fundamental goal of Genomics and Epigenetics theme is to understand genome biology and its impact on disease. Genomics is the study of information that is encoded within the full DNA sequence complement of an organism. Epigenetics is the study of how DNA is organised and regulated in the cell to promote a stably heritable phenotype without alterations in the DNA sequence.

The study of epigenomics involves genome-wide mapping of DNA methylation, histone modifications, nucleosome positioning and three-dimensional architecture and the integration of this information with RNA expression to understand the complexity of cell biology and development.  Visualisation of these complex data sets is key for interpretation and deciphering the underlying biology associated with genetic and epigenetic variation.

Our vision is to interpret the information encoded within the genome and elucidate how the pattern of spatial and temporal epigenetic and resulting transcriptional processes control human development; how disruption of these processes contributes to cancer and other diseases, including diabetes and neurological and immunological disorders; and to translate this knowledge to improve health outcomes through development of biomarkers and potential therapeutic targets. We aim to foster a supportive research environment in which scientists unlock a deeper understanding of the biology of the genome that informs the development of new treatments.

The Genomics and Epigenetics theme incorporates 4 core strengths to address Genome Biology and Disease:

  1. High Throughput Sequencing Technology
  2. Genomic and Epigenetic Technology Development
  3. Bioinformatics Tools for Integrative Analysis
  4. Visualisation of Genome and Epigenome data sets.

Research Laboratories and Groups


Affiliated Centres 

Garvan-Weizmann Centre for Cellular Genomics (Head: A/Prof Joseph Powell)

Kinghorn Centre for Clinical Genomics (Heads: A/Prof Sarah Kummerfeld and Mary-Anne Young)

Centre for Population Genomics (Head: Dr Daniel MacArthur)