BRIGHTanalysis is a project with partners from the ULB and VUB in which the goal is to develop intelligent online systems that allow doctors to analyze the genetic data of their patients from an oligogenic point of view. The scientific motivation for this research is that it is difficult for many diseases to unequivocally determine which variant is the cause in which gene. The combination of variants in two or more genes is in those cases the basis of the origin of the disease. In addition, it is also important for diseases where a unique variant has already been determined, which variants in other genes influence the strength or the onset of the symptoms. This project starts from a knowledge base that was developed in IB2, the new bioinformatics institute of ULB and VUB, around digenetic diseases, ie DIDA (Digenic Diseases Database). In the course of this project, the knowledge base will be further expanded and used for the development of predictive methods that can be used via the online platform for the analysis of the genetic data of a patient to gain insight into the cause of the disease. The tools will provide explanatory information that will support clinicians in the treatment of the patients for whom they have family exome data. These tools will therefore be valorised through BRIGHTcore, the genetic expertise platform of the ULB and VUB.
Alexandre Renaux, Charlotte Nachtegael, Nassim Versbreagen, Sofia Papadimitriou, Tom Lenaerts, Ann Nowé, Sonia Van Dooren, Maryse Bonduelle, Marc Abramowicz, Guillaume Smits and Catheline Villain.
ULB, VUB, Erasme, HUDERF, UZ Brussel
Gazzo, A. M., Daneels, D., Cilia, E., Bonduelle, M., Abramowicz, M., Van Dooren, S., Smits, G. and Lenaerts, T. (2015). DIDA: A curated and annotated digenic diseases database. Nucleic acids research, 44(D1), D900-D907.
Gazzo, A., Raimondi, D., Daneels, D., Moreau, Y., Smits, G., Van Dooren, S., & Lenaerts, T. (2017). Understanding mutational effects in digenic diseases. Nucleic acids research, 45(15), e140-e140.
Papadimitriou, S., Gazzo, A., Versbraegen, N., Nachtegael, C., Aerts, J., Moreau, Y., Van Dooren, S., Nowé, A., Smits, G. and Lenaerts, T. (2018) Predicting disease-causing variant combinations. (Submitted)
Versbraegen, N., Fouché, A., Nachtegael C., Papadimitriou, S., Gazzo, A., Smits, G. and Lenaerts, T. (2018) Using game theory and decision decomposition to effectively discern and characterise bi-locus diseases. (submitted)
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