A 515,579-Genome Reference Panel Improves Rare-Variant Imputation Across Multiple Underrepresented Populations
Franjo Ivankovic, Arthur Ko, Mary Morgan Taylor, Mary K. Balaconis, Eric Banks, Matthew Bemis, Kristian Cibulskis, Kylee Degatano, Laura Doyle Gauthier, George Grant, Aaron Hatcher, C. Kachulis, Konrad J. Karczewski, Sofia Labrecque, Jonathan Lawson, , Lee Lichtenstein
The paper presents a large reference panel of 515,579 genomes to improve rare-variant imputation across underrepresented populations, enhancing accuracy for variants with frequencies as low as 0.002%.
medRxiv · Aug 31, 2026 · PreprintGenetic & Genomic Medicine