Project Description

Dr Ann-Marie Patch

QIMR Berghofer Medical Research Institute

Mutation detection in whole-genome sequencing

Next generation sequencing & bioinformatics

Monday 2 July 2018

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. She is a member of the International Cancer Genome Consortium (ICGC). She led the analysis of the Australian ICGC ovarian cancer project (PI Grimmond and Bowtell) and works across many other cancer projects to develop methods for the interpretation of somatic mutations, copy number and structural variations and to integrate expression and methylation analyses. Her research interests focus on understanding the intricacies of genomic heterogeneity of cancer and how that affects response to therapy.

Throughout 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. I am part of an expert team of researchers and informatics specialists that have set up a pipeline to enable the analysis multi-omics datasets to identify variants that are associated with the hallmarks of cancer. In this talk I 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) from whole genome sequencing.