Sofia Papadimitriou

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Sofia Papadimitriou




F.R.S. – FNRS Postdoctoral researcher



Sofia is a F.R.S-FNRS postdoctoral researcher in bioinformatics, medical genetics and machine learning at the Machine Learning Group of ULB, the Artificial Intelligence lab of VUB and the Interuniversity Institute of Bioinformatics in Brussels. She is focusing on understanding the causes of oligogenic human diseases using bioinformatics, data analysis and machine learning methods. Her current project concerns the detection of genetic modifiers for retinal diseases.

She obtained a joint PhD between the ULB and VUB in September 2020, while she also holds an MSc in Bioinformatics from Wageningen University, the Netherlands and a BSc in Biology from Aristotle University of Thessaloniki, Greece.  She has previously (MSc and BSc) conducted research on plant genomics, as well as bacterial genomics and phylogeny.

Between 2019 – 2021, she has also been the president of the RSG Belgium, the Belgian branch of the ISCB Student Council’s Regional Student Groups, and chaired the 6th ISCB European Student Council Symposium in September 2021.

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2016 – 2020: PhD candidate | Université Libre de Bruxelles & Vrije Universiteit Brussel, Belgium

2014 – 2016: Master of Science in Bioinformatics | Wageningen University, the Netherlands

2008 – 2013: Degree in Biology | Aristotle University of Thessaloniki, Greece



Research interests


Medical genetics

Oligogenic and complex diseases

Machine learning


Graph theory, network inference


Selected publications


Nachtegael C. and Gravel B., Dillen A., Smits G., Nowé A., Papadimitriou S.*, Lenaerts T. Scaling up oligogenic diseases research with OLIDA: the Oligogenic Diseases Database. Database. April 2022 (2022),



Duerinckx S., Jacquemin V., Drunat S., Vial Y., Passemard S., Perazzolo C., Massart A., Soblet J., Racapé J., Desmyter L., Badoer C., Papadimitriou S., Le Borgne Y.A., Lefort A., Libert F., De Maertelaer V., Rooman M., Costagliola S., Verloes A., Lenaerts T., Pirson I., Abramowicz M. Digenic inheritance of human primary microcephaly delineates centrosomal and non‐centrosomal pathways. Human Mutation41 512-524 (2020),


Papadimitriou S., Gazzo A., Versbraegen N., Nachtegael C., Aerts J., Moreau Y., Van Dooren S., Nowé A., Smits G., Lenaerts T. Predicting disease-causing variant combinations. Proceedings of the National Academy of Sciences116(24), 11878-11887 (2019),


Renaux A., Papadimitriou S., Versbraegen N., Nachtegael C., Boutry S., Nowé A., Smits G., Lenaerts T. ORVAL: A novel platform for the prediction and exploration of disease causing oligogenic variant combinations. Nucleic Acids Research, 47(W1), W93-W98. (2019),


Versbraegen N., Fouché A., Nachtegael C., Papadimitriou S., Gazzo A., Smits G., Lenaerts T. Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases. Artificial Intelligence in Medicine. 99, 101690 (2019),



Schouten HJ., vande Gees H., Papadimitriou S., Bemer M., Schaart JG., Smulders MJM., Sanchez Perez G., Schijlen E.. Re-sequencing transgenic plants revealed rearrangements at T-DNA inserts, and integration of a short T-DNA fragment, but no increase of small mutations elsewhere. Plant Cell Reports 36(3), 493-504 (2017),

* Article corresponding author