Molecular and Genomic Pathway

The Molecular Genomics 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 principal that is conserved across all living things. The human genome, encompassing the entire genetic code, is comprised of approximately three million nucleotide letters; each person has two copies, one copy inherited from each parent.

Genomics technologies allow researchers to decode or count 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 to 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 personalized treatment of cancer that increases patient survival and reduces the toxicity of cancer treatment upon 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 operates the llumina HiSeq2500, NextSeq500 and the MiSeq, offering a versatile range of throughput for different projects and experimental protocols. The sequencers have been acquired through generous donations from Peter Mac’s donor community and Therapeutic Innovation Australia. Key applications include whole genome DNA resequencing, targeted capture for mutation discovery, transcriptome sequencing (RNA-seq) and epigenomics applications, such as ChIP-seq.

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 tumor 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. Researchers at PeterMac use it mainly 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 please contact us.

Facility staff


Dr Gisela Mir Arnau

Research assistants

Tim Holloway

Tim Semple

Sreeja Gadipally


Dr Gisela Mir Arnau

Phone: TBC

Email: [email protected]