We continue to explore large cancer datasets extensively, seeking new understanding regarding how and why cancers arise.
We have developed a reference database of mutational signatures (https://signal.mutationalsignatures.com). It has functionality to explore cancer-derived signatures and experimentally generated signatures. It can perform analyses and be used to seek the presence of any of the known mutational signatures in new samples. We welcome data deposition into our database.
We are also developing a holistic cancer genome profiling data interface to assist in processing, analysis and interpretation of whole cancer genomes.
The abstract nature of mutational signatures requires experimental validation. A systematic assessment of the effects of environmental agents and DNA repair/replicative pathways has been performed in an isogenic cell system with hundreds of cell line models developed in induced pluripotent stem cells (iPSCs). We are able to dissect mechanistic insights from these experimental systems.