DoAggregate: a pipeline for aggregation testing for rare-variant on a gene and pathway level

DoAggregate is a scalable pipeline that runs rare-variant aggregation tests across 10,447 genes and returns annotated, cohort-level results for 49 pathways and 36 GO terms in one run.

• Why it matters: Rare-variant aggregation analysis is limited by choosing appropriate statistical tests and by tools that lack end-to-end processing and region-level exploration beyond single genes.
• What they did: The pipeline uses Excalibur, an ensemble of 36 aggregation methods, and applies over-representation analysis while exporting detailed Excel outputs with annotations and plots.
• The result: On 1000 Genomes Project public exome data, it produced annotated results for each tested region, enabling comparison of findings across genome/exome-wide scales.

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