Gaspard Kerner

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 regulatory effects of Neanderthal and Denisovan introgression in immune-related genes using a massively parallel reporter assay across different cell types.

This study uses ancient DNA and genomic data to show natural selection has strengthened the immune system over 10,000 years, with both protective and harmful effects on immune-related diseases.

This paper introduces J-PEP, a method that clusters GWAS loci using pleiotropy and epigenomics, improving biological interpretation of disease associations.

The paper shows that per-allele effect sizes of genetic variants in European populations are better predicted by African MAF than European MAF.

This paper introduces PHBC to estimate pleiotropic heritability across diseases, finding that about half of common disease heritability is shared with other diseases.

This paper introduces a consensus variant-to-function score to prioritize disease-causing variants, showing improved performance in heritability enrichment and fine-mapping.

This study uses ancient genomics to show that genetic adaptation to pathogens in post-Neolithic Europe increased inflammatory disease risk through antagonistic pleiotropy.

The paper identifies environmental and genetic factors influencing population differences in SARS-CoV-2 immune responses using single-cell RNA-sequencing data.

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.