A/Prof Mark Cowley

BSc (Bioinf)(USYD), PhD (UNSW)

Group Leader 


Research theme

Personalised Medicine

Research group

Computational Biology


Associate Professor Mark Cowley is a computational biologist, whose main expertise is in genomics and precision medicine. Mark joined Children's Cancer Institute in 2018 as the Head of the newly formed Computational Biology Group and the co-head of the Luminesce Alliance Childhood Cancer Computational Biology Program. Since 2020, Mark is also the co-Head of the ACRF Childhood Cancer Liquid Biopsy Program.

Mark is best known for his translational bioinformatics research, having led the development of clinical-grade whole genome analysis, which has now been commercialised, and developed into one of the first whole-genome-sequencing-based pathology tests in the world. By developing the digital infrastructure that underpins the Zero Childhood Cancer clinical trial, Mark and his multi-disciplinary group are attempting to bridge the gap from vast amounts of molecular data to improved health outcomes, through making molecularly-informed treatment decisions in real-time, for children with high-risk or rare cancers. Mark’s research group is also investigating the impact of ‘non-coding mutations’ of children with cancer – mutations that occur in parts of the genome that don’t encode genes yet are thought to be important in other ways.

‘Precision medicine is the context of my work,’ Mark explains. ‘The aim is to improve outcomes for patients by understanding the molecular drivers of their tumours. We can use this data to improve outcomes in patients today, through making better treatment recommendations, as well as long-term to better understand cancer.’


PubMed list

Google Scholar


Eberhard Mammen Seminars in Thrombosis and Haemostasis Most Popular Article Award, 2020

Promoting High Quality Research Papers (PHQRP) Award, UNSW, 2019

Health Hack, Silver Medal – Cancer Clinical Trials Matcher, 2017

NSW Health Early-Mid Career Fellowship, 2017

Community Challenge Award, PrecisionFDA, 2016

Wildfire Award, Cancer Institute NSW (most highly cited paper of the year), 2015, 2018, 2019

Health Hack, bronze medal – Genome Pipeline Visualisation Platform, 2014

Award for Outstanding Contribution, Garvan Institute of Medical Research, 2013

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