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Platforms and Resources

A core mission of our group is to develop and provide tools that facilitate the use of genetic and omics data in complex trait research and functional genomics. We make our methods and  resources publicly available to support reproducibility and enable their application by the broader scientific community.  

·         Gene-based burden analysis — GenRisk  
           https://genrisk.readthedocs.io/en/latest/  

A framework for testing the cumulative impact of rare variants at the gene level. The  resulting scores can be used to generate gene-burden matrices, applicable in downstream analyses such as prediction models and integrative post-GWAS approaches.  

·         Polygenic score modelling — boost-PRS      
          https://github.com/boost-PRS  

An innovative boosting-based framework for polygenic score construction. Beyond  phenotype prediction, boost-PRS can also capture genetic effects on phenotypic  variance, providing a proxy for potential gene–environment interactions.  

·         Protein level prediction — ProteinPRS  
          https://www.proteinprs.com/  

A platform for predicting the genetically driven component of protein abundance using polygenic models. These models can also be employed in proteome-wide association studies (PWAS) for gene prioritization analyses.