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Damian Smedley

Damian Smedley

Professor of Computational Genomics, Queen Mary University of London

Professor Damian Smedley leads a Computational Genomics team at Queen Mary University London, where his research focuses on the use of multiomics, clinical and model organism data to obtain novel insights into rare disease causes and mechanisms. His team is involved in translational aspects of a number of projects, such as the International Mouse Phenotyping Consortium (IMPC). In collaboration with other members of the Monarch Initiative, he has developed tools that use phenotype comparisons for candidate gene prioritisation, particularly for the whole genome sequence interpretation of rare disease patients, as in the Exomiser software suite.

He served as Director of Genomic Interpretation at Genomics England from 2016 to 2018, and led the analysis of the impact of the 100,000 Genomes Project pilot on rare disease diagnosis in healthcare.

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