A flexible pipeline for reproducible exome-wide rare variant gene-trait associations
Kevin Y. H. Liang, Ethan Kreuzer, Yann Ilboudo, Yiheng Chen, John Brent Richards, Guillaume Butler‐Laporte
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.
medRxiv · Jun 26, 2025 · PreprintGenetic & Genomic Medicine