Project Description

Dr Ann-Marie Patch

QIMR Berghofer Medical Research Institute

An introduction to variant detection for whole genome data

Next generation sequencing & bioinformatics

Monday 1 July 2019

Ann-Marie leads the Clinical Genomics group at QIMR Berghofer Medical Research Institute. She is a bioinformatician who is an expert in the interpretation of multiple-omics data, including whole genome sequencing, transcriptomics and methylomics in cancer research. Her team works across many 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.

The technology for generating sequencing data is rapidly developing, as is the type and number of sequencing analysis software tools. For most alignment based projects variant detection is a key process that underlies layers of complex higher-level analysis. Therefore, it is important to ensure this process is robust and have a way of testing how well your process identifies variants. 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.