Simon Boutry

DoAggregate performs rare-variant aggregation tests across genes, pathways, and GO terms, providing detailed cohort-level results and visualizations.

The paper introduces a framework for defining and reusing qualifying variants (QVs) in genomic analysis to improve transparency, reproducibility, and interoperability across pipelines.

PanelAppRex aggregates and standardizes disease gene panels to enable efficient search and integration into bioinformatic workflows, recovering causal genes in all benchmarked cases.

The paper identifies genetic pathways and variants associated with sepsis susceptibility in children through genomic analysis of a paediatric cohort.

This paper introduces a statistical framework to quantify prior probabilities of disease-causing variants in inborn errors of immunity, revealing top genetic contributors and validating results in national cohorts.