Expanded map of genomic imprinting reveals insight into human disease
Craig Smail, Warren Cheung, Boryana S. Koseva, Adam F. Johnson, Chengpeng Bi, Carl F. Schreck, Michael L. Lydic, Kristin Holoch, Elena A. Repnikova, John C. Herriges, Courtney A. Marsh, Isabelle Thiffault, Tomi Pastinen, Elin Grundberg
The paper expands the human genomic imprinting map using long-read sequencing and GWAS integration, revealing new disease-associated loci and maternal/paternal imprinting patterns.
medRxiv · Sep 15, 2025 · PreprintGenetic & Genomic Medicine