Seminar: Aleksandra Suwalska
At our recent department seminar, Aleksandra Suwalska presented “From rare variants to gene scores: methods, challenges and the GORDIAN framework.”
It was a very engaging talk on how rare variant analysis can move beyond single variant interpretation toward more structured, gene-level, and patient-level scoring.
Aleksandra introduced the audience to approaches such as rare variant association tests (RVATs) and then moved toward scoring-based methods that can support patient stratification and gene prioritization in complex genomic datasets.
A particularly interesting part of the seminar focused on GORDIAN, an original framework currently being prepared for publication. The presentation also included comparisons between GenRisk and GORDIAN, showing how different assumptions behind scoring methods may influence the interpretation of genetic risk.
A great seminar and an inspiring example of how bioinformatics can help turn rare genomic signals into more interpretable clinical and research insights.
