Léon Mutesa

A common pathogenic founder variant in Rwandan breast cancer cases

Abstract Germline data from African populations remain sparse, limiting characterization of population-specific BRCA1 /2 pathogenic variants. In a study of 175 Rwandan women with breast cancer, 7 unrelated carriers (4% of cases; 22% of pathogenic variant carriers) harbored the sa...

Workflow management systems and reproducible pipelines for Plasmodium falciparum genomic surveillance: tools, design principles and infrastructure challenges

Genomic data are increasingly leveraged to enable malaria genomic surveillance, with many teams now generating Plasmodium falciparum sequence data for routine analysis. However, downstream analysis remains dependent on ad-hoc scripts and local infrastructure. This reliance limits...