Dr. Johan Hilge Thygesen





Research Focus

My main research interest lies in genetic analysis of complex disorders, with a specific focus on rare variants and in utilising electronic health records, to expand phenotype information. I have worked mainly within the field of mental health and psychiatric disorders, trying to establish causes as well as exploring ways to improve treatment and understand disease trajectories from electronic health records.


  • Analysis of correlation between antipsychotic polypharmacy and adverse side effects, using Natural Language Processing of Electronic Health Records from Camden & Islington NHS Foundation Trust.
  • Control selection in phenotype-rich datasets. Highly detailed phenotype data from electronic health records (incl. primary and secondary care information) can make control matching non-trivial, this tool seeks to help with that. I am working on a tool to aid matching of controls to cases in the Genomics England data.
  • CNV catalog, I am leading the development of a curated database recording published associations between human phenotypes and genetic Copy Number Variants.
  • Influences of copy number variants (CNVs) and polygenic risk scores (PRSs) in psychotic disorders: A prospective study and meta-analysis


I am lecturing on the following courses at the Institute of Health Informatics:

I also run the yearly practical session of Genome Wide Association Study, PLINK workshop and tutorial for the Neuroscience of Mental Health module at the UCL Division of Psychiatry.

When I am not working

I enjoy cooking and gardening on our little north-facing balcony. I practice meditation and am a keen reader. I like talk-radio and love watching quiz programs and going on holidays, but who doesn’t?

Key publications

  • Thygesen, J. H., Wolfe, K., McQuillin, A., … Vogels, A. (2018). Neurodevelopmental risk copy number variants in adults with intellectual disabilities and comorbid psychiatric disorders. The British Journal of Psychiatry : the Journal of Mental Science, 212(5), 287–294.
  • Calafato, M. S., Thgesen, J. H., Ranlund, S., … Bramon, E. (2018). Use of schizophrenia and bipolar disorder polygenic risk scores to identify psychotic disorders. British Journal of Psychiatry, 213(3), 535–541.
  • Ranlund, S., Calafato, S., Thygesen, J. H., … Bramon, E. (2017). A polygenic risk score analysis of psychosis endophenotypes across brain functional, structural, and cognitive domains. American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics. doi:10.1002/ajmg.b.32581
  • Thygesen, J. H., Zambach, S. K., Ingason, A., … Werge, T. (2015). Linkage and whole genome sequencing identify a locus on 6q25-26 for formal thought disorder and implicate MEF2A regulation. Schizophrenia Research, 169(1-3), 441–446.
  • Stefansson, H., Meyer-Lindenberg, A., Steinberg, S., … Stefansson, K. (2014). CNVs conferring risk of autism or schizophrenia affect cognition in controls. Nature, 505(7483), 361–366.