BSc (Hons); MSc; PhD
I am a bioinformatician specialising in the analysis of high-throughput genome and exome sequencing experiments and have developed web tools to allow the storage, filtering and visualisation of genomic data. These include MIG (Multi-Image Genome), miR-CRISPR, HEM, Capsequm and Sasquatch. I have generated a number of sample and clinical databases for research groups at the WIMM and have developed a variant analysis database to store and query predicted variants arising from genome-wide sequencing.
Prior to my time at the Computational Biology Research Group (CBRG) in the WIMM, I worked as a bioinformatician for four years at Oxford GlycoSciences (OGS) - a biotechnology/proteomics company. While at OGS I developed novel analysis methods for the interpretation of proteomics data, and initiated and developed a project to use this data in the annotation of the human genome.
During my PhD studies at the University of Warwick, I examined the light-induced production of carotenoids in Myxococcus xanthus. I then completed two post-doc positions in the lab at Warwick University and at the Department of Biochemistry, University of Cambridge, where my work centred on carbapenem antibiotic biosynthesis in Erwinia carotovora.
An integrated platform to systematically identify causal variants and genes for polygenic human traits
Downes D. et al, (2019)
Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.
Roy NBA. et al, (2019), Rheumatology (Oxford)
Unravelling Intratumoral Heterogeneity through High-Sensitivity Single-Cell Mutational Analysis and Parallel RNA Sequencing.
Rodriguez-Meira A. et al, (2019), Mol Cell, 73, 1292 - 1305.e8
CSynth: A Dynamic Modelling and Visualisation Tool for 3D Chromatin Structure
Todd S. et al, (2019)
Disruption of TWIST1 translation by 5' UTR variants in Saethre-Chotzen syndrome.
Zhou Y. et al, (2018), Hum Mutat, 39, 1360 - 1365