The impact of population variation in biomedical research

Overview
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 University of Essex
The University of Essex is University of the Year - Times Higher Education (THE) Awards 2018. In the recent Research Excellence Framework 77% of research at the University of Essex research is ’world leading’ or ’internationally excellent’ (REF 2014).We offer world-class supervision and training opportunities and our research students work at the heart of an internationally-acknowledged and well-connected research community. In the 2013 Postgraduate Research Experience Survey, 84% of respondents said that they were satisfied with the quality of their research degree. At Essex we win awards for our pioneering student support schemes. We are the most recent winners of the prestigious Times Higher Education award for Outstanding Support for Students. Essex is a genuine global community. With more than 130 countries represented within our student body, and 40% of our students from overseas, we are one of the most internationally-diverse universities in the UK.