Article

Structural polymorphism and diversity of human segmental duplications

2024-06-06

Abstract excerpt

Segmental 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. Excluding the acrocentric short arms, we identify 173.2 Mbp of duplicated sequence (47.4 Mbp n...

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Literature Corpus work: e25214d1-14fd-5f19-83cc-0ff221ff5150
DOI: 10.1101/2024.06.04.597452

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