ISCBacademy is an online webinar series including the ISCB COSI, COVID webinars, Indigenous Voices and practical tutorials. We aim to inspire, connect, and communicate the science while providing a hands-on experience accessing and using newly developed bioinformatics tools while ensuring best practices for rigour and reproducibility.
A variety of mutational processes shape genome evolution and can lead to the development of cancer by inducing DNA damage in the cells. These processes are triggered by environmental as well as intrinsic risk factors, and they leave specific footprints of somatic alterations in the genome. These mutational footprints, called “mutational signatures”, can be read from the tumour sequencing data and reveal the main sources of DNA damage driving neoplastic progression. In this sense, they can be considered a form of evidence for historical mutational events that have acted throughout an individual’s lifetime. I will discuss some of methodological innovations that have enabled the exploration of these mutational events in cancer genomes through the identification of systematic patterns of mutations in large scale sequencing cohorts. I will also illustrate some of the applications of this methodology to studying both healthy ageing as well as cancer.