Expanded map of genomic imprinting reveals insight into human disease

Authors: Craig Smail, Warren A. Cheung, Boryana Koseva, Adam F. Johnson, Chengpeng Bi, Carl F. Schreck, Michael Lydic, Kristin Holoch, Elena Repnikova, John Herriges, Courtney Marsh, Isabelle Thiffault, Tomi Pastinen, Elin Grundberg

Alle-specific methylation is often underappreciated but plays a crucial role in understanding what drives development and disease. Short reads miss most of this signal (up to 60%), proving methylation isn’t just extra data, it’s essential for discovery. With HiFi, you get it automatically with every genome.

Journal: MedRxiv
DOI: 10.1101/2025.09.15.25335770
Year: 2025

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