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University of Exeter

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PhD Studentship: Developing a variant effect predictor for multiple missense variants in the same protein molecule to aid clinical interpretation University of Exeter in United Kingdom

Degree Level

PhD

Field of study

Computer Science

Funding

Available

Deadline

Dec 8, 2026

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Country

United Kingdom

University

University of Exeter

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Keywords

Computer Science
Biomedical Engineering
Biology
Functional Genomics
Medical Science
Clinical Genomics
Statistics
Bioinformatic
Rare Disease
ML

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About this position

[Full tuition fees plus a stipend of £21,805 per annum for 2026/7.]

PhD studentship at the University of Exeter on developing a new variant effect predictor for multiple missense variants in the same protein molecule.

This EPSRC-funded project tackles an important challenge in clinical genomics: most variant interpretation tools assess missense changes one at a time, even though many patients carry multiple variants in the same gene or protein. The project will develop and validate a new computational method, described in the advert as multiVEP, to predict the combined effect of multiple amino acid substitutions and improve interpretation of variants of uncertain significance in rare disease diagnostics.

The research is highly interdisciplinary and combines 3D protein structure modelling, machine learning, genetics, bioinformatics, and functional genomics. The project will use clinical and population genetic data, biochemical resources such as AlphaFold, and functional datasets such as MAVEs. The methodology includes benchmarking existing approaches, modelling interactions between variants in structured domains, across domains, in disordered regions, and even across proteins in the same complex.

The supervisory team brings complementary expertise from Exeter, the University of Edinburgh, and Imperial College London. According to the advert, the supervisors contribute experience in clinical variant effect prediction, dataset validation, and 3D-structure-based tool development.

Funding is provided by the Engineering and Physical Sciences Research Council (EPSRC). The studentship covers full fees and includes a stipend of £21,805 per annum for 2026/7.

Applications should be submitted by 8 December 2026. This is a strong opportunity for candidates interested in computational genomics, protein science, and translational bioinformatics with clear relevance to medical genetics and rare disease research.

Funding details

Available

What's required

Applicants should have a strong interest in computational biology, genetics, bioinformatics, protein structure, and machine learning. The project is highly interdisciplinary and will suit candidates able to work with genetic, biochemical, and functional datasets and develop or evaluate computational models. No explicit degree classification, GPA, or English language requirement is stated in the post.

How to apply

Apply through the University of Exeter funding application link provided in the advert. Submit your application before 2026-12-08. Review the project details carefully to align your statement with the computational and genomics focus.

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