Since 2001 I have been Head of Bioinformatics at the MRC Human Genetics Unit, one of the largest UK MRC research establishments. I am also Professor of Computational Biology at the Institute of Genetics and Cancer (IGC), University of Edinburgh. My group provides computational collaborative expertise to IGC clinical and experimental research groups, and also large research consortia such as the Scottish Genomes Partnership. I am a committee member of the Genetics Society, the EpiGeneSys EU-wide network of excellence in epigenetics and systems biology, various MRC review panels and journal editorial boards. My PhD was in population genetics at the University of Edinburgh (1994), followed by postdoctoral stints at the University of Michigan and Trinity College Dublin exploring the first genome sequences derived from yeast and worms. In 1998 I joined the MRC Human Genetics Unit, studying the initial human genome sequence to understand human disease predisposition. These interests have continued to the present, with a current focus on gene regulation and structural variation in cancers and developmental disorders.

The genes embedded in your genome have complex patterns of activity and particular constellations of genes must be active at particular times for biological processes, such as embryonic development, to conclude successfully. I am interested in the fundamental biology of gene regulation: when, how and why genes are turned on and off. We try to understand the mechanisms underlying gene regulation, using computational analyses of genomic datasets. This can provide new insights into human evolution and help us interpret disease processes with aberrant regulation, such as cancers and developmental disorders. We focus on relatively poorly studied cancers, such as ovarian cancer and the brain cancer glioblastoma, where the tumour genomes become dramatically rearranged as they evolve during disease progression. With our clinical and experimental collaborators we explore the consequences of these rearrangements for gene functions, and for cancer patient outcomes. The aim is to better understand tumour biology, to reveal new vulnerabilities that can be targeted in cancer treatments.

Genome structure, mutation and human disease

Cancer genomics and tumour evolution

Population genomics in human isolate populations

Regulatory genomics and mammalian evolution