Yann Ilboudo

The paper introduces a customizable pipeline for exome-wide rare variant gene-trait associations, demonstrating its utility by replicating three studies and providing a standardized framework for similar analyses.

This study evaluates AlphaMissense's impact on gene-based testing for disease causation using UK Biobank exome data, finding no significant improvement in identifying disease-causing genes.

This paper introduces the shortest reactional distance (SRD) metric to improve the biological interpretation of metabolite genome-wide association study (mGWAS) results by linking genes to metabolites based on metabolic pathway knowledge.

The paper identifies nephronectin as a mediator of obesity's effect on COVID-19 severity using proteome-wide Mendelian randomization and validates its expression in lung cells.

This study uses whole-exome sequencing to directly call HLA alleles in the UK Biobank, identifying 129 novel associations between HLA alleles and 11 autoimmune diseases.

The paper uses Mendelian randomization to confirm a causal link between L-glutamine levels and reduced painful crises in sickle cell disease, while finding no significant causal relationships for other metabolites.