Molecular genomics facility

The Molecular Genomics Core facility offers researchers access to state-of-the-art genomics technology platforms, providing service and expertise in conducting genomics experiments.

DNA and RNA are molecules made up of a four-letter genetic code (nucleotides), a principle that is conserved across all living things. The human genome, encompassing the entire genetic code, comprises approximately three million nucleotide letters; each person has two copies, one copy inherited from each parent.

Genomics technologies allow researchers to decode or count specific DNA and RNA molecules to find differences that exist between normal and diseased cells. As cancer is a genetic disease caused by mutations that are either inherited or acquired during life, genomics technologies are extremely powerful tools for discovering mutations in genes implicated in cancer.

These discoveries are being translated into new diagnostic and prognostic tests, and are used to predict whether an individual will respond to a specific therapy. Such applications are enabling a more personalised treatment of cancer that increases patient survival and reduces the toxicity of cancer treatment on normal cells and tissues.

Research capabilities

The Molecular Genomics Core at Peter Mac operates three major platforms: Illumina Sequencing, NanoString nCounter and QX200 Droplet Digital PCR.

Illumina Sequencing System

The Core houses the Illumina HiSeq2500, acquired in 2010 through generous donations from Peter Mac’s donor community and Therapeutic Innovation Australia. The HiSeq2500 is mainly used for whole-genome DNA resequencing and exome sequencing.

Since late 2014, the Core also has access to the Illumina NextSeq500, located in the Pathology Department at Peter Mac. The Illumina NexSeq500 is part of a newer generation of Illumina sequencers, faster and more flexible. In collaboration with the Pathology Department, we use it for the development of clinical-grade assays for tumour profiling, to support patient care and clinical research. We also use it for transcriptome sequencing (RNA-Seq), epigenomics applications such as ChIP-seq, and biomarker discovery.

NanoString nCounter Analysis System

The NanoString nCounter Analysis System is part of a new wave of genomic technologies, enabling the rapid and reliable analysis of nucleic acids at single-molecule resolution. The platform is mainly used for the study of differential gene expression in panels of genes defined by tumour stream. This technology tolerates the use of small amounts of input material and the use of DNA/RNA from archival formalin-fixed, paraffin embedded (FFPE) samples.

QX200 Droplet Digital PCR System

The QX200 Droplet Digital PCR (ddPCR) System provides absolute quantification of target DNA or RNA molecules for a wide variety of applications. At Peter Mac it is mainly used to measure cancer biomarkers, such as mutations and copy number variation states, with high sensitivity and resolution.

The facility also houses ancillary equipment for sample preparation and quality control, including an Eppendorf epMotion and an Agilent BenchCell (robotic liquid handling systems), Agilent Bioanalyzer 2100 and TapeStation, BioTek Synergy HT Microplate Reader, Covaris S2 Ultrasonicator, Sage Science Pippin Prep system and Life Technologies Qubit fluorometer.

Contact information and facility use

Use of the facility is available to external users by fee-for-service agreement, subject to availability.

For further information about booking the Molecular Genomics Core facility, please contact us.

Facility staff


Dr Gisela Mir Arnau

Research assistants

Tim Holloway

Tim Semple

Sreeja Gadipally


Dr Gisela Mir Arnau

Phone: (03) 8559 7561

Email: [email protected]