• 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

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.

Summer Semester 

• Understanding your Genome - An Introduction to Human Genome Analysis and Interpretation

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 Rep 14, 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".