Population-scale Long-read Sequencing in the All of Us Research Program
Kiran V. Garimella, Qiuhui Li, Julie Wertz, Samuel K. Lee, Fabio Cunial, Yongqing Huang, Yulia Mostovoy, Ryan Lorig-Roach, Adam C. English, Hang Su, Shawn A. Levy, Donna Marie Muzny, Chelsea Berngruber, Matt Christopher Danzi, William T. Harvey, , Evan E. Eichler
The paper analyzes long-read sequencing data from the All of Us Research Program to identify structural variants and their associations with diseases in a large cohort of Black or African American participants.
medRxiv · Oct 2, 2025 · PreprintGenetic & Genomic Medicine