Since 2001 I have been Head of Bioinformatics at the MRC Human Genetics Unit (HGU), 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, as well as clinical colleagues in NHS Scotland. We also participate in large research consortia such as the Scottish Genomes Partnership, ICGC PCAWG and the FANTOM projects. I am a committee member of the Genetics Society, various funding review panels and journal editorial boards, and working groups for the Scottish Strategic Network for Genomic Medicine. 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 data releases to understand human disease predisposition. These interests have continued to the present, with a particular focus on gene regulation and structural variation in cancers.
My MRC research programme at HGU, studies mutational processes in two contexts: in the germline and early embryo, where mutation can disrupt developmental expression patterns, and in tumours, where complex mutational patterns drive tumourigenesis and cancer patient outcomes. We pursue research aims linking mutation to gene regulation and disease, motivated by three questions. What are the origins and impact of mutations in development? How does structural complexity drive tumour evolution? What is the predictive value of combinatorial genomic biomarkers in cancer?
Further information:
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.
The Semple Lab 