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Causes and consequences of copy number variation in humans

  • Full or part time
  • Application Deadline
    Applications accepted all year round
  • Self-Funded PhD Students Only
    Self-Funded PhD Students Only

Project Description

Copy number variation, where different chromosomes have different numbers of the same gene, is common in the human genome. Genes showing this variation include immune response genes, such as the beta-defensins. Little is known about the how these loci contribute to susceptibility to infectious and inflammatory disease, and even less is known about the evolution of such loci.

The PhD can be wet-lab based, bioinformatics-based or involve a mixture of bioinformatics and wet-lab work. There are lots of interesting questions that each could form the basis of a PhD:

Are individuals with fewer of these genes more susceptible to infections or inflammatory disease?
How does the copy number and sequence of these genes vary between different human populations?
How do such regions evolve and are they maintained throughout primate evolution?
How can we analyse copy number variation using next-generation sequencing data?

We have collaborations with other geneticists, clinicians, cell biologists locally, nationally and internationally that are involved in different aspects of this work. The lab has had funding from the Medical Research Council and Wellcome Trust, and has current funding from Pfizer.

We are an equal opportunities employer and particularly welcome applications for Ph.D. places from women, minority ethnic and other under-represented groups.


Usher and McCarroll (2014) Complex and multi-allelic copy number variation in human disease. Briefings in Functional Genomics Jul 9. pii: elv028
Hollox and Hoh (2014) Human gene copy number variation and infectious disease. Human Genetics 133:1217-33
Polley et al. (2015) Evolution of the rapidly mutating human salivary agglutinin gene (DMBT1) and population subsistence strategy. Proc Natl Acad Sci U S A. 112:5105-10

How good is research at University of Leicester in Biological Sciences?

FTE Category A staff submitted: 37.40

Research output data provided by the Research Excellence Framework (REF)

Click here to see the results for all UK universities

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