CORDIS Project
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This project aims to enhance the identification of harmful genetic variants linked to human diseases by combining computational methods with experimental techniques. It focuses on understanding various molecular mechanisms of mutations and developing a comprehensive variant prioritization pipeline to improve diagnostic…
The ability to identify damaging genetic variants is central to the diagnosis, treatment and prevention of human disease.
Computational phenotype predictors are widely used for prioritising likely pathogenic mutations, but their utility is limited by their accuracy.
Conversely, experimental characterisation of variants is powerful but time consuming and difficult to perform on a large scale, limiting applicability in routine variant prioritisation.
In this project, we will improve our ability to…
THE UNIVERSITY OF EDINBURGH
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