I am a MRC research programme leader at the MRC Human Genetics Unit (HGU), studying medical and regulatory genomics with three broad aims. 1. To investigate the roles of chromatin structure and mutational bias during regulatory evolution. 2. To explore the evolution of genome structure in developmental disorders and isolated populations. 3. To understand the origin and impact of complex structural variation in cancers.
I am also Head of Bioinformatics and Professor of Computational Biology at the Institute of Genetics and Cancer (IGC), supporting approximately 500 scientists. My group provides computational collaborative expertise to IGC experimental research groups, from large biomedical sequencing projects (such as the Scottish Genomes Partnership) to integrative systems analysis of cells, organs and organisms.
I am a committee member of the Genetics Society, and a member of the EpiGeneSys network of excellence, as well as various funding body referee panels and editorial boards.
Present position:
Head of Bioinformatics, IGC; MRC HGU Programme Leader; Professor of Computational Biology
University of Edinburgh, UK
2001-present
I run a laboratory carrying out novel research in computational genomics and human disease. Our research activities span genomics, transcriptomics and epigenomics, to understand the underlying basis of human and model organism phenotypes. We are particularly interested in the evolution of gene regulation in the human genome and the disruptions to genome function in human diseases such as cancers. In addition I head the institute Bioinformatics Core providing education, advice and collaborative expertise to all current research programs.
Postdoctoral work:
Staff Bioinformaticist
MRC Human Genetics Unit, UK
1998-2001
Collaborative sequence analysis developing custom solutions for a wide variety of groups involved in everything from yeast cell biology to human genetic disease susceptibility, including the first demonstration of a rare human translocation causing psychiatric disease.
EU funded postdoctoral research fellow
Trinity College Dublin, Ireland
1996-1998
Investigation of the extent and patterns of gene duplication and gene conversion in the first releases of whole genome sequence data from C. elegans.
NIH funded postdoctoral research fellow
University of Michigan, USA
1994-1996
Empirical investigations of the evolution and maintenance of structural polymorphisms spontaneously arising in large, monoclonal microbial populations.
Thesis work:
PhD in population genetics
University of Edinburgh, UK
1990-1994
Experiments examining mechanisms underlying the maintenance of inversion polymorphisms using large populations of D. melanogaster and computer simulation.
