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PhD Studentship: The Impact of Population Variation in Biomedical Research

University of Essex - Biological Sciences

Qualification Type: PhD
Location: Colchester
Funding for: UK Students, EU Students, International Students
Funding amount: £15,009 per annum
Hours: Full Time
Placed On: 31st May 2019
Closes: 22nd July 2019
Reference: 11288


Humans have a relatively small degree of genetic variation. However, some groups show more variation than others (i.e. African populations).

Most biomedical research on the human genome is based on a reference sequence but this is composed mostly of individual of European ancestry. Recent efforts to account for this diversity have lead to a number of projects that successfully sampled and sequenced individual from multiple populations, but the computational convenience of using a single human reference genome sequence does not take into account this sampled diversity.

In a recent work we found that the study of specific regulatory sites is heavily biased by the use of a reference sequence and we have identified functional regulatory interaction that are only present in African populations, and not detected in standard pipelines based on the current reference sequence (Helmy, Hatlen, Marco, under review).

We propose a project in which a PhD candidate will explore major databases and tools to investigate gene regulatory interactions, and evaluate the impact of variation across human populations in functional genomics analysis. A new method to account for population variation will be developed. Validations from the new method will be validated in the lab, in collaboration with molecular biologists at our School.

Programming skills are not required from the candidate, but an interest in computational biology is a must. During the project, the candidate will learn state-of-the-art bioinformatics, data analysis and programming, and there will be plenty of training opportunities in these areas.

In summary, the project aims to provide insight on how population variation has an impact in genomic and genetic biomedical studies, and how we should conduct this type of research.         

You are encouraged to contact the supervisor before application: If you have any queries with the online application process, please contact

For general information about the School of Biological Sciences at the University please visit our webpages


The award consists of a full Home/EU fee waiver or equivalent fee discount for overseas students (further fee details), a doctoral stipend equivalent to the Research Councils UK National Minimum Doctoral Stipend (£15,009 in 2019-20), plus £2,500 training bursary via Proficio funding, which may be used to cover the cost of advanced skills training including conference attendance and travel.  This is a competition funded studentship.

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