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.
A blood atlas of COVID-19 defines hallmarks of disease severity and specificity
Ahern DJ. et al, (2021)
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