Article

Resolving the full set of human polymorphic inversions and other complex variants from ultra-long read data

2025-05-29

Abstract excerpt

Inversions are a unique type of balanced structural variants (SVs) with important consequences in multiple organisms. However, despite considerable effort, this and other complex SVs remain poorly characterized due to the presence of large repeats. New techniques are finally allowing us to identify the full spectrum of human inversions, but the number of individuals analyzed is still quite limited. Here, we take a...

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Literature Corpus work: 7933cd64-0284-5be0-a64b-8c956aae37ce
DOI: 10.1101/2025.05.27.656315

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