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.
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders.
Calpena E. et al, (2021), J Med Genet
Patient-derived malignant pleural mesothelioma cell cultures: a tool to advance biomarker-driven treatments.
Kanellakis NI. et al, (2020), Thorax
Correction: SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E. et al, (2020), Genet Med, 22
SMAD6 variants in craniosynostosis: genotype and phenotype evaluation.
Calpena E. et al, (2020), Genet Med, 22, 1498 - 1506
CSynth: An Interactive Modelling and Visualisation Tool for 3D Chromatin Structure.
Todd S. et al, (2020), Bioinformatics