DoAggregate: a pipeline for aggregation testing for rare-variant on a gene and pathway level
Simon Boutry, Cedric Van Marcke, Nisha Limaye, Guillaume Smits, Pascal Pascal Brouillard, Martina De Bortoli, Eleonore Pairet, Ali Saadat, Raphael Helaers, Jacques Fellay, Tom Lenaerts, Miikka Vikkula
DoAggregate performs rare-variant aggregation tests across genes, pathways, and GO terms, providing detailed cohort-level results and visualizations.
bioRxiv · Nov 3, 2026 · PreprintBioinformatics