The project aims to describe how damaging variants establish themselves in a population, and how penetrance (the probability that the damaging effect is expressed) affects the probability that a damaging variant becomes common. This will help us understand how genetic defects spread, and potentially help develop strategies for prevention.
The project aims to describe how damaging variants establish themselves in a population, and how penetrance (the probability that the damaging effect is expressed) affects the probability that a damaging variant becomes common. This will help us understand how genetic defects spread, and potentially help develop strategies for prevention.
Genetic defects that case inherited diseases and fertility problems occur in many domestic animal populations, among farm, sport and companion animals. Despite their damaging effects, such variants can rise to high frequencies due to drift or balancing selection. Reduced penetrance means that a damaging effect is only expressed in some animals, making the the variant, on average, less harmful. The question is to what extent reduced penetrance helps a defect to spread in a population.
The project will use genetic simulation, combined with mathematical models, to evaluate how penetrance affects the probability that a damaging allele establishes itself in a population. The project may build on general mathematical models of idealised populations, and also create more detailed simulations of particular known defects, such as the allele that causes gonadal hypoplasia in Swedish Mountain cattle or the recently discovered defect that causes muscle weakness in Holstein calves. Genetic parameters can be varied to study the effect of strenght of selection, population size and dominance coefficient.
Suitable for: Animal Science, Bioinformatics.