Article

PerSVade: Personalized Structural Variation detection in your species of interest

2021-11-23

Abstract excerpt

<h4>ABSTRACT</h4> Structural variants (SVs) like translocations, deletions, and other rearrangements underlie genetic and phenotypic variation. SVs are often overlooked due to difficult detection from short-read sequencing. Most algorithms yield low recall on humans, but the performance in other organisms is unclear. Similarly, despite remarkable differences across species’ genomes, most approaches use parameters...

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Literature Corpus work: 895dd28d-69c6-5963-9f22-b33159ecfc80
DOI: 10.1101/2021.11.23.469703

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