I am a Professor of Computational Genomics at Queen Mary University London where my research focusses on the use of phenotype data to obtain novel insights into disease causes and mechanisms. My team is involved in translational aspects for a number of projects such as the International Mouse Phenotyping Consortium (IMPC) and Monarch Initiative. In collaboration with other members of the Monarch Initiative we have developed tools that utilise phenotype comparisons for candidate gene prioritisation, particularly for whole genome sequence interpretation of rare disease patients as in the Exomiser software suite. I served as Director of Genomic Interpretation at Genomics England from 2016-2018 and led the analysis of the impact of the 100,000 Genomes Project pilot on rare disease diagnosis in healthcare.