ERC Consolidator Grant · 2020
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 identify pathogenic variants through a combination of computational and experimental approaches. Fundamental to our strategy will be our consideration of alternate molecular mechanisms by which…
From the public funding record at EU CORDIS. Describes the funded project, not the reviews below.