Supervisor: Dr Mark Wass

School of Biosciences, University of Kent
 

Genome sequencing projects such as the 1000 genomes project have generated

extensive genetic data from which much knowledge about the genetic variation in

individuals has been obtained. However, to date the identified genetic variation has only

be able to explain a small proportion of the relationship between genotype and

phenotype. It is now important to identify which variants have functional roles, particularly

those that have a role in disease.
 

This PhD project will combine structural bioinformatics and systems biology approaches

to analyse genetic variation and to also develop methods to predict the functional effect of

genetic variants. Particular focus will be on the analysis and use of protein complexes to

identify the functional effects of genetic variants. This will build upon recent a analysis

demonstrating that disease-associated variants are enriched at protein-protein interfaces

(David et al. 2012). The novel methods developed will be applied to extend our

understanding of how genetic variation is related to disease and will investigate the

potential for application to personalised medicine.
 

Ideally candidates will have some experience of computer programming and an interest

in biochemistry/structural biology and this position would be particularly suited to

individuals with an MSc in bioinformatics/systems biology.
 

All candidates are expected to have a minimum of an upper 2nd class degree in an

appropriate field. To qualify for full funding students must be UK or EU citizens. Funding

is available for 3 years and includes a Stipend paid at RCUK (Research Council UK)

standard rate.
 

Applicants are encouraged to make informal enquiries with Mark Wass

m.n.wass@kent.ac.uk.

Applications can be made online at www.kent.ac.uk/studying/postgrad/gradapply.html.

The position is available with a start date between October 2012 to March 2013.

Applications will first be considered after an initial deadline of 24 September, with the position remaining open until filled.
 

Listed below are recent publications by the supervisor that are relevant to the proposed project:
 

• David, A., Razali, R., Wass, M.N., Sternberg, M.J. (2012) Protein-protein interaction sites are

hot spots for disease-associated non-synonymous SNPs. Human mutation, 33, 359–363.

• Wass, M.N., Kelley, L.A. and Sternberg, M.J. (2010). 3DLigandSite: Predicting ligand binding

sites using similar structures. Nucleic Acids Res. 38:W469–73.

• Chambers, J.C., Zhang, W., Sehmi, J., Li, X., Wass M.N. et al., (2011) Genome-wide

association study identifies loci influencing concentrations of liver enzymes in plasma. Nat

Genet 43:1131–1138.

• Chambers JC, Zhang W, Lord GM, van der Harst P, Lawlor DA, Sehmi JS, Gale DP, Wass

M.N., et al., (2010) Genetic loci influencing kidney function and chronic kidney disease. Nat

Genet, 42, 373-5.

• Chambers, J.C., Zhang, W., Li, Y., Sehmi, J., Wass, M.N. et al., (2009) Genome-wide

association study identifies variants in TMPRSS6 associated with hemoglobin levels. Nat

Genet, 41, 1170-2