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Author

Jaime Martínez-Urtaza

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Open access Sep 2026

Resolving missing human polymorphic inversions and other complex variants from ultralong read data

Inversions are a unique type of balanced structural variants (SVs) with important consequences in multiple organisms. However, despite considerable effort, these and other complex SVs remain poorly characterized because of the presence of large repeats. New techniques are finally allowing us to identify the full spectr...

R. Moreira-Pinhal, Konstantinos Karakostis, Illya Yakymenko et al. · 0 citations

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