Simon McGowan
BSc (Hons); MSc; PhD
Computational Biologist
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.
Recent publications
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A biallelic mutation inIL6STencoding the GP130 co-receptor causes immunodeficiency and craniosynostosis.
Journal article
Schwerd T. et al, (2017), J Exp Med, 214, 2547 - 2562
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Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans.
Journal article
Kim S. et al, (2017), Hum Mol Genet, 26, 2118 - 2132
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Diagnostic value of exome and whole genome sequencing in craniosynostosis.
Journal article
Miller KA. et al, (2017), J Med Genet, 54, 260 - 268
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Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12-Related Craniosynostosis.
Journal article
Goos JAC. et al, (2016), Hum Mutat, 37, 732 - 736
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Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis.
Journal article
Fenwick AL. et al, (2016), Am J Hum Genet, 99, 125 - 138
ORCID
0000-0001-9720-1914