DongAhn Yoo

Jun 6, 2024 | biorxiv.org | Hyeonsoo Jeong |Philip C. Dishuck |DongAhn Yoo |William Harvey

AbstractSegmental duplications (SDs) contribute significantly to human disease, evolution, and diversity yet have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies where the majority of SDs are fully resolved using long-read sequence assembly.