Structural polymorphism and diversity of human segmental duplications

Authors: Hyeonsoo Jeong, Philip C. Dishuck, DongAhn Yoo, William T. Harvey, Katherine M. Munson, Alexandra P. Lewis, Jennifer Kordosky, Gage H. Garcia, Human Genome Structural Variation Consortium (HGSVC), Feyza Yilmaz, Pille Hallast, Charles Lee, Tomi Pastinen, Evan E. Eichler

In this preprint, HiFi reveals segment duplications (SDs) unresolvable by short reads. This missing info is essential for understanding human disease, evolution and diversity. Researchers from HGSVC, UW, Altos Labs, JAX, CMKC conducted a study including a “population genetics survey of SDs by analyzing 170 [all HiFi] human genome assemblies where the majority of SDs are fully resolved using long-read sequence assembly.”

Journal: Biorxiv
DOI: 10.1101/2024.06.04.597452
Year: 2024

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