Somatic Genetics

With the increasing availability of exome and whole-genome sequencing (WGS), this has allowed us to characterise the genomic changes in cancer tumours. Using paired tumour-normal tissue samples, we are able to identify those changes that may have an impact on tumour development. Some types of analyses we perform include:

• detecting SNVs and indels, copy number alterations, and structural variants

• identification of coding and non-coding cancer driver genes

• mutational signature analysis

• complex genomic rearrangements, much as chromothripsis (massive de novo rearrangements of one or multiple chromosomes); chromoplexy (balanced translocations across multiple chromosomes); and kataegis and chromosomal duplications (chromoanasynthesis)

• evolutionary trajectories

• analysis of clonality

• mitochondria and microbiome

As more and more genomes are sequenced, this gives us more power to identify those genetic changes that may lead to tumour development.