Benedetta Bigio

This paper evaluates methods to control population stratification in rare variant association studies, finding that a novel permutation method maintains correct type I error across all scenarios.

This paper introduces LocPerm, a permutation method that accounts for population stratification in rare-variant association studies, showing it maintains type I error control and stable power across small samples and stratification levels.

HMZDelFinder_opt improves detection of homozygous and hemizygous partial exon deletions in WES data by optimizing reference controls and using a sliding window approach.

The paper introduces a genome-wide case-only test to detect digenic inheritance in human exomes, showing it is more powerful than case-control tests and robust to population stratification.