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.
CaptureCompendium: a comprehensive toolkit for 3C analysis
Telenius J. et al, (2020)
Majeed syndrome: description of a novel mutation and therapeutic response to bisphosphonates and IL-1 blockade with anakinra.
Roy NBA. et al, (2020), Rheumatology (Oxford), 59, 448 - 451
An integrated platform to systematically identify causal variants and genes for polygenic human traits
Downes D. et al, (2019)
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)