Our People

Ann-Marie Patch

Associate Professor | Team Head

Clinical Genomics



Associate Professor Ann-Marie Patch currently leads the Clinical Genomics group at QIMR Berghofer. She is a bioinformatician, who is experienced in the analysis and interpretation of cancer genomics data. 

Her PhD, awarded from the University of Exeter, UK in 2006, combined wet lab and computational research components investigating genomic roles of repetitive elements in model yeast systems. As a post-doctoral scientist, Associate Professor Patch, moved to human genetics, investigating monogenic causes of neonatal hypo- and hyper-glycaemia, Maturity Onset Diabetes of the Young (MODY) and pancreatic agenesis. She moved full-time to the diagnostic Molecular Genetics Laboratory as a Bioinformatician for the NHS in 2009, developing clinically appropriate automated sequencing pipelines, implementing LIMS and investigating gene panel testing assays for Next-generation Sequencing platforms.

In 2011, she joined Professor Sean Grimmond’s research team at the University of Queensland, as a bionformatician on the Australian International Cancer Genome Consortium projects, leading the analysis of the ovarian cancer project. In 2014, Associate Professor Patch came to QIMR Berghofer as part of Dr Nicola Waddell’s Medical Genomics team, working on the Australian ICGC pancreatic and melanoma projects.  She has a passion for training the next generation of researchers and was part of the Bioplatforms Australia training team from 2015-2018.



2018-current: Team Head, Clinical Genomics Group, QIMR Berghofer



2014: Senior Research Officer, Medical Genomics Group, QIMR Berghofer

2011: Senior Bioinformatics Research Officer, Institute for Molecular Bioscience, University of Queensland

2009: Bioinformatician, Molecular Genetics Laboratory, Royal Devon and Exeter NHS Foundation Trust Hospital, UK (non-research position)

2007: Research fellow, Peninsula College of Medicine & Dentistry, University of Exeter, UK

2006: Research assistant, Peninsula College of Medicine & Dentistry, University of Exeter, UK









The Clinical Genomics team of bioinformaticians works across multiple different cancer types and have wide ranging experience of the analysis and interpretation of cancer genomics data, including whole-genome and whole-exome sequencing, single-cell and tumour transcriptomics and methylomics. The main research focus is to understand the effects of intratumour heterogeneity on cancer treatment response by investigating tumour clonal structure using somatic genomic mutations and transcriptome data.



2014-2019: Developed informatics methods for the detection and annotation of somatic structural rearrangements that contributed to the multiple papers from the Australian International Cancer Genome Projects (pancreatic ductal adenocarcinoma, pancreatic neuroendocrine tumours, high-grade serous ovarian cancer and multiple sub-types of melanoma). Additionally multiple other cancer genomics projects including oesophageal, mesothelioma and colorectal cancer

2015-2018: Bioinformatics trainer for BioPlatforms Australia (BPA) – developing and delivering training courses on cancer genomics and providing training for bioinformatics trainers

2016: Detected and reported somatic structural rearrangements that cause a hypermutation phenotype in pancreatic cancer through gene breakage of a mismatch repair gene

2015: Identified the pattern of somatic structural rearrangements associated with homologous recombination repair deficiency in ovarian and pancreatic cancers

2014: Using whole genome sequencing to identify non-coding regulatory point mutations important in pancreas development




  • Research Foundation of the Columbia Hospital For Women Annual Award for Research Excellence in Breast, Obstetrical and Gynecologic Disorders for the paper: ‘Whole-genome characterization of chemoresistant ovarian cancer’ published in Nature 2015
  • QIMR Berghofer post-doctoral prize $3000



2006: PhD, Genomics/Bioinformatics, University of Exeter, UK

2001: BSc (Hons) First class, Biological Sciences, University of Exeter, UK