Aurélie Cobat

The paper introduces 5ULTRA, a machine-learning tool for annotating 5'UTR variants, identifying new gene-phenotype associations in the UK Biobank that are missed by existing methods.

The paper identifies sequence variation in 5S rRNA genes across human populations and shows that variants disrupting ribosome assembly activate p53 and are selected against.

Homozygosity for hypomorphic IL23R variants (G149R, G300V, R381Q) partly impairs IL-23-dependent IFN-γ production in patient cells; with L372F (effect inferred), they are enriched in tuberculosis, not MSMD or CMC patients.

The paper identifies lipid mediator networks associated with COVID-19 severity and risk of critical illness using multi-omics profiling across disease severity groups.

MosCoverY estimates mosaic loss of the Y chromosome from NGS sequencing data, showing comparable performance to existing methods and replicating known associations.

The paper identifies PLSCR1 as a host factor restricting SARS-CoV-2 entry, which recent variants have evolved to bypass, through a CRISPR screen and integration of genetic studies.

This paper identifies a common TMPRSS2 variant that reduces the risk of severe COVID-19 by impairing SARS-CoV-2 entry into cells.

The paper investigates monocyte subset heterogeneity and its impact on influenza virus susceptibility across populations, revealing differences in transcriptional responses and infection resistance between African and European ancestry individuals.

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.

The paper identifies rare variants in PRKN and LRRK2 associated with leprosy type-1 reactions and finds overlap with Parkinson’s disease pathogenic mechanisms.