Laurent Abel

The paper reports three patients with inherited TNF deficiency who developed tuberculosis, showing TNF's essential role in immunity against M. tuberculosis.

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 and functionally characterizes regulatory variants in DPP9 associated with severe COVID-19 by analyzing genetic risk factors and their impact on gene expression and immune cell function.

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

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.

The paper introduces BPHunter, a computational tool to detect intronic variants disrupting branchpoints, identifies known and novel mutations, and validates them experimentally.

This study identifies factors influencing DNA methylation variation in human blood, showing that cytomegalovirus infection and aging drive methylation changes, with cellular composition and DNA sequence as key predictors.

The paper identifies novel genetic and non-genetic factors associated with plasma protein levels in healthy donors, highlighting their impact on immune response variability.

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 develops CoNeS to assess negative selection on genes causing severe inborn errors, finding that disease outcome and inheritance mode/mechanism influence selection strength.

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 166 dispensable human genes with common loss-of-function variants that show relaxed selective constraints and some evidence of positive selection.

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

SeqTailor extracts DNA or protein sequences from VCF files for genetic variant analysis, providing a user-friendly webserver to support sequence-based predictions.

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

This study identifies age, sex, and genetic variants as key predictors of variability in humoral immune responses to pathogens and vaccines.

This study compares whole-genome sequencing (WGS) and whole-exome sequencing (WES) in six individuals, finding WGS more effective at detecting coding variants, particularly SNVs, with fewer false positives.