Systematic common and rare variant association testing in 392,030 whole genomes in All of Us
Wenhan Lu, Robert J. Carroll, Matthew Solomonson, Jérémy Guez, Megan K. He, Daniel Marten, Alejandro Martínez-Carrasco, Ying Wang, Connor S. Dowd, Masahiro Kanai, Bram L. Gorissen, Aymone Kouame, James Brogan, Bennett J. Waxse, Ryan Samarakoon, , Konrad J. Karczewski
The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.
medRxiv · May 12, 2026 · PreprintGenetic & Genomic Medicine