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Entries in genomics (5)


Eva Chan, Human Comparative and Prostate Cancer Genomics Lab, Garvan Institute of Medical Research 

On the bioinformatics scale (if there is one), I sit at the statistical genetics/genomics end.  

I've recently returned to Sydney from sunny California where I led the statistical genetics team at the Vegetable Seeds Division at Monsanto. My Post-Doc trainings were at the Kliebenstein lab at UC Davis & in Toni Reverter's Biostatistics group at CSIRO (Brisbane, Australia). I'm currently establishing a Bioinformatics and Biostatistics team within the Human Comparative and Prostate Cancer Genomics lab at the Garvan Institute of Medical Research

My research, in terms of the biology and organism, has been quite varied over the years. However, there is always two underlying themes:  "genetic variation" and "big data analysis".  In essence, I enjoy developing and applying statistical and bioinformatics approaches to -omics data with the aim to better elucidate the link between genetics/genomics and phenotype. 

Find me (or my R scripts) @



Mark Cowley - Garvan Institute & Kinghorn Cancer for Clinical Genomics

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.



Watson-Haigh, Nathan - Bioinformatician/BIG SA


Arthur, Jonathan

Associate Professor Jonathan Arthur is the Head of Bioinformatics at Children's Medical Research Institute.


Seemann, Torsten (Victorian Bioinformatics Consortium)

I'm the Scientific Director of the Victorian Bioinformatics Consortium (VBC) at Monash University. That sounds fancy, but it just means I spend more time in meetings and admin than I used to, but I still get to play. The VBC now has 5 staff, and we all work half for Monash, and half for the Life Sciences Computation Centre in Parkville. Our speciality is NGS, genomics, transcriptomics, de novo assembly and annotation, and we tend to work on non model organisms, particularly bacteria and parasites. Our skills cover Perl, Python, Haskell, Ruby, R, C, JScript and we like to create tools that work reliably.