Martin is interested in understanding how new DNA sequence changes arise and the consequences of those changes for human health. Many of the insights come from investigating the record of past evolution, using "the light of evolution" to explore the human genome. His main aims are centred around three interlinked themes: of Understanding mutational processes, interpretation of genetic variation and the evolution of
gene regulation.

Prior to establishing the group in Edinburgh, Martin worked at the EMBL, European Bioinformatics Institute (EBI), with Dr Nick Goldman on the application of evolutionary models to understand genome evolution. Before this he was at the Wellcome Trust Centre for Human Genetics, at the University of Oxford, with Professor Richard Mott providing bioinformatics support to multiple research groups and pursuing his own research interests in evolutionary genomics. Martin maintained active participation in the international FANTOM consortium through each of these positions. During his PhD studites, Martin worked with Professor David Porteous on the characterisation of a chromosomal translocation that segregated with major mental illness, contributing to the discovery of the DISC1 gene. He obtained a BSc (hons, 1^st) in Genetics from the University of Liverpool.

Sarah Aitken (MRC Toxicology)

Luke Boulter (MRC, HGU)

Paul Flicek (EMBL, EBI)

Andrew Jackson (MRC HGU)

Núria López-Bigas (IRB, Barcelona)

Duncan Odom (DKFZ, Heidelberg)

Liz Patton (MRC HGU)

Colin Semple (MRC HGU)

Improving our understanding of genetic differences between species allows us to better interpret genetic risk in people. We are all at risk of developing a wide range of diseases, some very common, including heart disease, diabetes, dementia and cancer. But such risks differ hugely between individuals, and are to a large degree influenced by the sequence of DNA in our cells.

The big question is which of the many thousands of DNA differences between individuals are responsible for increasing or decreasing their risk of developing a given disease. The historic record of evolution can provide some answers. We can read it as the differences in DNA between species, for example human versus mouse. The pattern of differences between species can reveal functionally important regions of DNA. Contrasting the between species pattern with the differences between people can point to the critically important changes that influence disease risk.

More broadly, we compare how DNA has changed between species with the differences between people. This allows us to study why and where DNA changes (mutations) arise, and what the functional consequences of those changes are. We are applying these methods to understand the genetic basis of many rare and common diseases.

We are endeavouring to understand the processes of selection and mutation that are acting to shape genomes. It is well known that selection shapes the pattern of genomic changes that accumulate as populations diverge from a common ancestor. This has proven to be a very useful signature for the identification of functionally important regions of the genome. But it is becoming increasingly clear that variation in the pattern of new mutations can also generate superficially similar signals. Improved separation of these confounding evolutionary signatures is crucial if we are to understand how organisms evolve, and to relate contemporary genetic changes to human biology and disease.

This work is multi-disciplinary, operating at the intersection of population genetics, evolutionary genomics and functional genomics, we integrating and processing large (multi-genome scale) datasets. Genetic changes that have accumulated between species tell us about the combined effects of both mutation pattern and selection. In contrast, mutations that are still segregating in populations (as rare variants or polymorphisms) show the same impact of mutation but the consequences of selection are more subtle. We leverage the differences of between-species and within-species variation to separate the patterns of mutation from those imposed by selection.