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Investigating the impact of multiallelic copy number variation on disease-relevant traits in UK and African populations - Reference: T2/24

Department of Genetics and Genome Biology

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Dr E Hollox , Dr K Fawcett No more applications being accepted Competition Funded PhD Project (Students Worldwide)

About the Project

Complex regions of the genome harbour extensive diversity and often include genes that code for important functions such as metabolism of therapeutic drugs and response to bacterial and viral infection. However, these regions are understudied because of technical difficulties, and little is known about how variation in these regions affects human phenotypes. We have applied a novel copy number variant (CNV) detection and genotyping pipeline to exome sequencing data from the UK Biobank that can successfully and reliably genotype complex multiallelic variation. This project will conduct a phenotype-wide association study with clinical phenotypes such as lung function and body mass in UK Biobank (N = 200,000) to understand the contribution of multiallelic CNVs to disease-relevant traits. The results will provide insights into the biological processes underlying these traits and have the potential to identify novel therapeutic targets and inform precision medicine. Furthermore, in collaboration with colleagues in South Africa, we will genotype multiallelic variation in a large cohort of African exomes to investigate their distribution and phenotypic impact in populations of African ancestry. This projects provides an excellent opportunity to develop skills in genetic epidemiology, statistics and bioinformatics, as well as to work with international collaborators on data from other global populations.

Entry requirements
• Candidates applying to the 4-year PhD should hold or expect to hold a UK first-class or upper second-class (2:1) undergraduate degree or a Master's degree in a relevant subject or overseas equivalent
• Candidates applying to the 1-year MSc + 4-year PhD should hold or expect to hold a first-class or upper second-class (2:1) undergraduate degree or overseas equivalent
• University of Leicester English language (URL: requirements apply
Candidates who do not meet these entry requirements, but feel they have additional research experience should describe this clearly in the applicant statement.
Applicants should note that this programme is not intended for clinically active, medically qualified candidates.

UK/EU and International* applicants may apply.
*International applicants not applying from a Low or Middle Income Country must be able to demonstrate that they can fund the difference between UK/EU and International tuition fees for the duration of the PhD.

For project enquiries please contact the relevant Theme lead or the project supervisor in the first instance.

Administration and general enquiries to Sarah Robinson at [Email Address Removed].

To Apply
Please follow the application advice and submit your application using the online application form at
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