The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration
Duncan S. Palmer, Barney Hill, Sam Hodgson, Maarja Jõeloo, Georgios Kalantzis, Athanasios Kousathanas, Satoshi Koyama, Wenhan Lu, Shinichi Namba, Zachary B. Rodriguez, Jonathan Shortt, Kyuto Sonehara, Nicholas Vartanian, Ha My T. Vy, Isaac Wade, , Benjamin M. Neale
The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.
medRxiv · May 24, 2026 · PreprintGenetic & Genomic Medicine