A high-resolution human pangenome structural variant resource for improved disease association
Jiadong Lin, Jonas A. Gustafson, Julie Wertz, Yang Sui, DongAhn Yoo, David Porubskỳ, Can Luo, Isaac Wong, Kiran V. Garimella, Quihui Li, Luyao Ren, Nidhi Koundinya, Nikhita Damaraju, Lingbin Ni, Chenlu Di, , Evan E. Eichler
The paper constructs a high-resolution human pangenome structural variant resource, identifies disease-associated SVs, and demonstrates its utility in filtering variants from probands and associating SVs with traits in a large cohort.
medRxiv · Aug 25, 2026 · PreprintGenetic & Genomic Medicine