The project will develop new improved mathematical models of the mutational process to be used in the analysis and understanding of both germline and cancer mutations.
Mutation of the DNA is a truly fundamental process in biology. It occurs in all species and is the ultimate source of all genetic variation. Germline mutations – i.e., mutations that occur during the formation of egg and sperm cells – are ultimately responsible for all evolutionary adaptations and heritable diseases. Mutations occurring later in life may on the other hand turn normal cells into dangerous cancer cells. Good models of the mutational processes are therefore essential in both cancer research and studies of germline mutations and evolution.
This project will develop new methods that address specific shortcomings in how we currently model mutation processes and demonstrate the usefulness of these methods. The new methods will improve the ability to detect the activity of a specific mutational process in a tumor and make it easier to find cancer genes. Furthermore, the new germline mutation rate models created as a part of this project will help researchers find genes where new mutations cause severe diseases.
Read more about the project here.