PhD; MSc; MRes; BSc (Hons)
I am the director of the MRC Computational Genomics Analysis and Training programme (CGAT). The CGAT programme aims to apply data science methods to biomedical research, and my work focusses on computational analysis, integration and interpretation multi-omic data sets. My interests range from identification and interpretation of genetic variants in rare disease and cancer to understanding mechanisms of transciptional regulation using methods such as single-cell transcriptomics, RNAseq, ChIPseq, DNA accessability and chromatin conformation analysis. I completed a BSc in Biochemistry, a Master of Research in biomedicine and Masters in Computer Science in Glasgow before going on to a Phd in Computational Biology and Functional Genomics at UCL. Before coming to CGAT in 2011, I worked at as post-doctoral scientist in computational cancer genomics in the laboratory of Prof Alan Ashworth at the Institute of Cancer Research in London.
Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44.
Watson LM. et al, (2017), Am J Hum Genet, 101, 451 - 458
Multipotent Basal Stem Cells, Maintained in Localized Proximal Niches, Support Directed Long-Ranging Epithelial Flows in Human Prostates.
Moad M. et al, (2017), Cell Rep, 20, 1609 - 1622
CHRONIC LYMPHOCYTIC LEUKEMIA PATIENTS EXPRESSING THE LIGHT CHAIN IGLV3-21 HAVE A POOR PROGNOSIS INDEPENDENTLY OF HEAVY CHAIN IGHV3-21 OR THE IGHV MUTATIONAL STATUS
Stamatopoulos B. et al, (2017), HAEMATOLOGICA, 102, 69 - 69
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.
Jaffer F. et al, (2017), Neurol Genet, 3
Deep Brain Stimulation in Three Related Cases of North Sea Progressive Myoclonic Epilepsy from South Africa
Anderson DG. et al, (2017), Movement Disorders Clinical Practice, 4, 249 - 253