Mark Cowley

Mark Cowley PhD is Associate Professor and Head of Bioinformatics and Integrative Genomics at Children's Cancer Institute and the University of New South Wales (UNSW) Sydney. He is a leading computational cancer genomicist known for developing AI and machine learning tools for clinical interpretation of multi-omics cancer genomics data and for advancing the implementation of whole-genome and long-read sequencing in paediatric cancer care in Australia. Cowley leads bioinformatics for the Zero Childhood Cancer (ZERO) Program — Australia's national personalised medicine programme for children and adolescents with high-risk cancer — which performs comprehensive multi-omic profiling (WGS, RNA-seq, methylation arrays, proteomics) on each patient's tumour and uses multi-disciplinary Molecular Tumour Board review to guide treatment. His group developed the PURPLE/AMBER/COBALT suite of bioinformatics tools for clinical WGS analysis used within ZERO and internationally, and has driven adoption of Oxford Nanopore long-read sequencing to resolve complex structural variants and methylation patterns undetectable by short-read approaches. Cowley has published foundational analyses from ZERO demonstrating the clinical actionability rate achievable with comprehensive multi-omics profiling and has developed machine learning classifiers for cancer type prediction from DNA methylation and multi-omics data. His work is directly influencing paediatric cancer genomics programmes globally.