Matthieu Bouaziz

The combined use of scRNA-seq and network propagation highlights key features of pan-cancer Tumor-Infiltrating T cells

The paper combines scRNA-seq and network propagation to refine gene signatures of TI-Tregs and Tex, revealing their biological processes and immunometabolic features.

Controlling for Human Population Stratification in Rare Variant Association Studies

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.

Taking population stratification into account by local permutations in rare-variant association studies on small samples

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.

A genome-wide case-only test for the detection of digenic inheritance in human exomes

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.

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.