Using AI to investigate and modulate gene function in patient populations and biobanks

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Drug target identification and validation is a critical foundation in drug discovery that has been shown to be extensively informed by genetic data. This MSD collaborative PhD will focus on using AI for the interpretation of genetic changes that disrupt the function of protein-coding genes. By linking variants to phenotype it is possible to identify both benign and damaging impacts from human knockouts with immediate implications for drug discovery, including the identification of safer targets or drug repositioning opportunities, or the early identification of potential risks for drug discovery. The project will feed from a number of global collaborative projects linking genetic variation to human phenotypes and disease risk, with a particular focus on genotyping and exome data from Genes and Health, a large-scale study in consanguineous South Asian individuals living in the UK. Genes and Health (https://www.genesandhealth.org/) is a unique research programme working with the South Asian communities in East London, Bradford and Manchester, which have some of the highest rates of heart disease, diabetes, and poor health in the UK. Uniquely the study involves the whole community, linking across primary and secondary care. This presents an opportunity to explore a wide range of phenotypes, including broad measures of health and healthy aging, ultimately leading to new ways of improving health for communities in the UK and worldwide.