Director of Genomic Interpretation and Associate Director of Bioinformatics, Genomics England
Dr. Smedley is Director of Genomic Interpretation for Genomics England, overseeing the clinical analysis of the rare disease and cancer genomes emerging from the 100,000 Genomes Project. He is also a Senior Lecturer at Queen Mary University London where his research focusses on the use of phenotype data to obtain novel insights into disease causes and mechanisms. His team is involved in translational aspects for 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 utilise phenotype comparisons for candidate gene prioritization, particularly for next-gen sequence interpretation of rare disease patients as in the Exomiser software suite.