Understanding the rules of life

Bioscience for an integrated understanding of health

Category: Standard Studentships

Variation in the mutation rate across the human genome

Project No.2321

Primary Supervisor

Prof Adam Eyre-Walke – University of Sussex


Dr Marta Farr̩ Belmonte РUniversity of Kent


Mutations are the ultimate source of all genetic variation.

The mutation rate is known to vary across the human genome at a variety of different scales, from variation between adjacent sites, to variation between whole chromosomes. This variation is observed both in the germline, generating heritable genetic differences, including those that cause a variety of human diseases, and in the soma, which can cause cancer. Despite its importance this variation remains poorly characterised and understood. This project will address a number of different questions. In the first part we will address the extent to which variation is population specific. It has been shown that certain combinations of nucleotides in particular populations are more mutable than others, but is variation at larger scales population specific? In the second part of the project, we will investigate whether a single mutational event can generate multiple mutations? And in the third part of the project, we will investigate the relationship between variation in the mutation rate in the germline and soma: are regions of the genome that are more mutable in the germline also mle mutable in the soma. The project will give us insight into a fundamental biological process. The project will involve the analysis of DNA sequence data and will give the student training in bioinformatics, big data and statistical analysis. Students with some experience of bioinformatics are particularly encouraged to apply. The project will be supervised by Prof Adam Eyre-Walker at the University of Sussex, and Dr. Marta Farré-Belmonte, at the University of Kent, two leaders in the field of molecular evolution.