Project Description

Dr Ann-Marie Patch


QIMR Berghofer Medical Research Institute

Mutation detection in whole genome sequencing

Next generation sequencing & bioinformatics

Monday 4 July 2016

Through landmark studies carried out as part of the Australian International Cancer Genome Consortium projects studying the molecular basis of pancreatic, ovarian and now melanoma tumours the development of robust mutation detection methods has been key. Initially at the Queensland Centre for Medical Genomics, at IMB and now at the QIMR Berghofer Medical Research Institute an expert team of researchers and informatics specialists have set up a high performing framework to enable the analysis of whole human genomes for the presence of DNA, RNA and epigenetic variants that are associated with the hallmarks of cancer. This talk will describe and discuss the principles and challenges of identifying the full range of mutation types including single nucleotide variants, indels up to large structural variants (SVs) using whole genome sequencing. I will present the bases of mutation detection for ICGC projects with examples of how mechanisms driving tumorigenesis may be identified.

Ann-Marie is currently a Senior Research Officer within the Medical Genomics group led by Dr Nicola Waddell, at the QIMR Berghofer Medical Research Institute. Her current research focuses on cancer genomics working with large collaborative groups to identify the molecular basis of melanoma and mesothelioma. The detection and advancement in the understanding of the consequences of structural variants in cancer, linking to understanding the mechanisms of DNA repair are of particular interest to her. With a PhD, gained in 2006 from the University of Exeter UK, that combined bioinformatics and laboratory approaches to study fission and budding yeast genetics she joined the intertwined research and diagnostic teams of Prof. Andrew Hattersley and Prof. Sian Ellard at the Peninsula College of Medicine & Dentistry and Royal Devon and Exeter Molecular Genetics Laboratory using next generation sequencing to identify monogenic causes of neonatal diabetes and causal mutations for a broad spectrum of genetic disorders. Cancer genomics has been her focus for the last five years leading the analysis of the ovarian cancer data as part of the Australian ICGC team led by Prof. Sean Grimmond that she continues in her current role.