Genomics is the study of the genetic material of an organism. It involves functional and structural characterization of genes (DNA) and their products (RNA) to determine genetic factors that play a role in disease. Genomic studies often compare the sequence and expression of genes between normal and diseased individuals with the aim of identifying either mutations or a particular pattern of differential expression of gene subsets that are associated with a particular disease. Methods used in genomic studies are highly sensitive and can also be used to detect genetic material that may be present in low abundance such as viral DNA in patients receiving antiviral therapies or DNA from tumour cells which may be circulating at low frequency in blood. The other main application of genomics is genotyping, where differences in genetic make-up between individuals or cell types can be used for identification purposes.


Joey Lai currently manages the Genomics Core Facility.


The Genomics facility provides four services to researchers from the Westmead Research Hub and external customers:
Agilent Bioanalyzer
The Agilent 2100 Bioanalyzer is a microfluidics-based platform for sizing, quantification and quality control of DNA, RNA, proteins and cells.
The Genomics facility houses a Beadarray reader capable of scanning Illumina’s Sentrix Arrays. Microarray-related services provided include:

  • Sample hybridization and washing
  • Chip scanning
  • Data analysis using Genomestudio

Short Tandem Repeat (STR) Genotyping Analysis 
STR analysis allows identification and authentication of human cell lines, as well as detection of cell line contaminants.

Library preparation for Next Generation Sequencing
The Genomics facility also offers a library preparation service for a range of Next Gen sequencing projects.

The Nanostring nCounter system allows simultaneous high precision quantitation and expression profiling of up to 800 genes and gene regulators (miRNA) in a single sample as well as allowing profiling of gene copy number variation in up to 800 regions in the human genome. The system is sensitive enough to perform single cell gene expression analysis and can generate results from challenging sample types such as formalin-fixed paraffin embedded tissue.


The following instruments are also available to Researchers to be trained on:

QX 200 Digital Droplet PCR
Digital droplet PCR allows absolute quantification of nucleic acid target sequences and is useful for the detecting and quantifying rare targets. Applications of this technology include viral load detection, rare mutation detection, copy number variation analysis and accurate quantification of gene expression.



The Genomics Facility is located on Level 2 of the Westmead Millennium Institute for Medical Research