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 biallelic mutation inIL6STencoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Schwerd T. et al, (2017), J Exp Med, 214, 2547 - 2562
Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Kim S. et al, (2017), Hum Mol Genet, 26, 2118 - 2132
Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Miller KA. et al, (2017), J Med Genet, 54, 260 - 268
Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Goos JAC. et al, (2016), Hum Mutat, 37, 732 - 736
Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Fenwick AL. et al, (2016), Am J Hum Genet, 99, 125 - 138