BioinformaticsbioRxivPreprint
DoAggregate: a pipeline for aggregation testing for rare-variant on a gene and pathway level
Simon Boutry, Cedric Van Marcke, Nisha Limaye…·Miikka Vikkula
DoAggregate performs rare-variant aggregation tests across genes, pathways, and GO terms, providing detailed cohort-level results and visualizations.
DOI 10.64898/2026.10.29.762468