Runxi Shen

The paper develops a scalable workflow to reclassify variants of uncertain significance using experimental and predictive evidence, resolving 75% of VUS in 40 genes.

The paper evaluates a buffering mechanism for deleterious mutations and shows it leads to lower adaptive fixation rates and reduced MK test power compared to an arms race model.

This paper develops a theoretical framework to predict the genomic resolution of bulk segregant analysis (BSA) based on coalescence theory and experimental parameters.