University of Exeter
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PhD Studentship: Rare variant functional genomics for better understanding, prevention and treatment of musculoskeletal disorders University of Exeter in United Kingdom
Degree Level
PhD
Field of study
Computer Science
Funding
Available
Deadline
Jan 5, 2027
Country
United Kingdom
University
University of Exeter
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About this position
PhD Studentship at the University of Exeter on rare variant functional genomics for better understanding, prevention and treatment of musculoskeletal disorders.
This interdisciplinary studentship focuses on uncovering the genetic architecture and biological mechanisms underlying disabling musculoskeletal conditions such as osteoarthritis and Dupuytren’s contracture. The project combines large-scale human genomics, statistical analysis, and functional validation to move from genetic association toward mechanistic insight and potential therapeutic targets.
In the first phase, the student will work at the University of Exeter in health data science and statistical genomics. Using whole-genome sequencing and medical record data from large biobanks including UK Biobank, All of Us, and Our Future Health, the project will identify rare genetic variants associated with musculoskeletal disease. The work will involve phenotype definition, rare-variant and structural-variant association testing, and integration of multi-omic resources such as eQTL and pQTL data to prioritise candidate genes and regulatory regions.
In the second phase, the student will move into laboratory-based functional genomics at the University of Oxford. There, they will validate top-prioritised variants in disease-relevant models, including primary human cells, ex-vivo tissue, and humanoid robotic bioreactors. Experimental approaches will include CRISPR-Cas9 gene editing, transcriptomics, and cellular phenotyping to determine how genetic changes alter cellular function and contribute to disease.
The studentship is part of the UKRI HFGI MSK Cluster and offers access to strong interdisciplinary expertise across Exeter and Oxford. At Exeter, the student will benefit from major biobank resources, high-performance computing, and established data science expertise. At Oxford, they will work with state-of-the-art molecular biology laboratories and well-phenotyped tissue biobanks within the Musculoskeletal Cluster.
Funding includes Home tuition fees and a Doctoral Stipend for up to 4 years. This is a strong opportunity for candidates interested in human genetics, functional genomics, bioinformatics, and experimental molecular biology applied to musculoskeletal disease.
Application deadline: 05 Jan (normalized to 2027-01-05 based on the posting date).
Funding details
Available
How to apply
Apply through the University of Exeter funding application page. Use the application link provided in the posting and submit before the deadline. Review the full studentship details for any additional project-specific instructions.
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Make your next move.
Prepare your application
Review drafts and confirm requirements with the provider.