I am passionate about genomic medicine – the application of genome technology and information to clinical practice. This has been enabled by my research into the genetics of common and rare diseases, using classical techniques such as linkage analysis and genetic association and more recent methodologies including whole exome and genome sequencing. Coupled with genome-wide analysis of the transcriptome and epigenome, I am now applying these methods to develop new diagnostic tests offering more precise, molecular diagnoses than was previously possible._x000D_
My other interests are Hill walking, sailing and social bridge.