Postgraduate Research Opportunity

The impact of population variation in biomedical research


Title: The impact of population variation in biomedical research

Funding: Full time Home/EU fees and a stipend of £15,009 p.a. (terms & conditions)

Application deadline: 17 May 2019

Start date: October 2019

Duration: 3 years (full time)

Location: Colchester Campus

Based in: School of Biological Sciences


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.


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.

How to apply

You can apply for this postgraduate research opportunity online.

Please include your CV, covering letter, personal statement, and transcripts of UG and Masters degrees in your application.

Your personal statement should explain why you are applying for this specific project and what you could bring to the team in terms of skills, experience and enthusiasm.

Instruction to applicants

When you apply online you will be prompted to fill out several boxes in the form:

  • For "Course title" please put "PhD Biological Sciences"
  • For "Proposed research topic or area of research" please put the title of this studentship (The impact of population variation in biomedical research)
  • For "If you have contacted a potential supervisor..." please put the name of the supervisor (Dr Antonio Marco)

If you have any informal queries about this opportunity please email the supervisor, Dr Antonio Marco (

You can find the terms and conditions of this studentship here (.doc)