Genotype-phenotype association studies in large-scale Electronic Health Records (EHRs) databases
Neuropsychiatry (epilepsy, neurodevelopmental disorders and related mental health disorders)
Rare diseases and recessive effects
Monogenic effect of rare "de novo" variants
Genomic data science
Join us!
Feel free to reach out if you are interested in a research internship or master thesis related to these topics or that requires the use of genomic data. More info on our website.
Teaching
Summer Semester
Understanding your Genome - An Introduction to Human Genome Analysis and Interpretation
Posters and publications
Publications
Eoli, A*., Ibing, S*., Schurmann, C. et al.A clustering approach to improve our understanding of the genetic and phenotypic complexity of chronic kidney disease. Sci Rep14, 9642 (2024). https://doi.org/10.1038/s41598-024-59747-4
Z Yang, FD Pajuste, K Zguro, Y Cheng, DE Kurant, A Eoli, J Wanner, B Jermy, FinnGen, Estonian Biobank research team, S Kanoni, DA van Heel, Genes & Health Research Team, C Hayward, RE Marioni, DL McCartney, A Renieri, S Furini, Genomics England Research Consortium, INTERVENE consortium, R Mägi, A Gusev, P Drineas, P Paschou, H Heyne, S Ripatti, N Mars, A Ganna. "Limited overlap between genetic effects on disease susceptibility and disease survival" (preprint)
* Shared first authorship.
Posters
Poster presentation at ESHG 2024: Eoli A., Abou Jamra R., Biskup S., Gilissen C., Lemke J., Schulte B., Heyne H. "Impact of de novo variants on epilepsy in neurodevelopmental disorders".
Poster presentation at ESHG 2022: Eoli A., Ibing S., Heyne H., Girish N., Böttinger E.P. "Use of different soft-clustering approaches to discover genetic subtypes of chronic kidney disease".