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Published in 2025 at "Nature Genetics"
DOI: 10.1038/s41588-024-02051-8
Abstract: Segmental duplications (SDs) contribute significantly to human disease, evolution and diversity but have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies…
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Keywords:
genetics;
segmental duplications;
structural polymorphism;
polymorphism diversity ... See more keywords