Talk Title: Detecting somatic variants in cancers using whole genome sequencing


Cancer genomics consortiums such as TCGA (The Cancer Genome Atlas) and ICGC (International Cancer Genomes Consortium) have contributed a huge amount of data and knowledge to the cancer genomics field. These resources are regularly used in data mining studies or as validation datasets in a wide range of research publications. It is therefore imperative that researchers understand the processes that underpin variant detection for cancer genomics and also have an appreciation of the challenges.  This talk will provide a broad introduction to describe and discuss the principles and challenges of identifying the full range of mutation types including single nucleotide variants, small indels and large structural variants (SVs) focussing on whole genome DNA sequencing.

Ann-Marie Patch


Dr Ann-Marie Patch, Senior Research Officer, QIMR Berghofer Medical Research Institute

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 particularly interested in advancing knowledge to predict the consequence of structural variants in cancer and to integrate this with other genomics data in order to investigate clinical treatment response and resistance.

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