I am the head of Translational Genomics in the Kinghorn Centre for Clinical Genomics (KCCG), within the Garvan Institute. I am also a Cancer Institute NSW early career fellow, a senior bioinformatics research officer, and a conjoint senior lecturer at the St Vincent's Clinical School, UNSW.
My primary area of research is translational genomics, that is the application of genome and transcriptome sequencing technologies in the clinic. This involves the use of exome and genome sequencing to uncover the genetic basis of rare, Mendelian disease; the use of targeted gene-panel sequencing to characterise patient tumours for clinically actionable variants and potential off-label therapeutics; the characterisation of pharmacogenomic variants from otherwise healthy individuals; the use of NGS to study liquid tumour biopsies, that is, to detect circulating tumour DNA fragments to be used as both a diagnostic, and as a tool to better understand tumour evolution.
In my role at the Kinghorn Centre for Clinical Genomics I am playing a large part in establishing one of the world's first Illumina HiSeqX Ten sequencing systems. This exciting technology has the capacity to economically sequence upto 18,000 whole human genomes (30x) per year. As such there is a considerable challenge to setup a genome factory to meet the demands of such throughput, with the rigorous quality demanded by the clinical environment.
Brief bio: I completed a BSc (Bioinformatics, Hons 1) at USYD in 2003, and a PhD in bioinformatics, quantitative genetics and genomics at UNSW in 2008. I have been at the Garvan Insititute since 2007, initially as a bioinformatics officer, then as a senior research officer in the Pancreatic Cancer Group and Australian Pancreatic Cancer Genome Initiative. In 2013 I joined the recently created KCCG as a senior bioinformatics officer, and in early 2014 was awarded an early career fellowship with Cancer Institute NSW. In mid-2014, I became the head of Translational Genomics within KCCG.