Article

Anyone can be the best: Impact of diverse methodologies on the evaluation of structural variant callers

2025-09-01

Abstract excerpt

Structural variants (SVs) are medium and large-scale genomic alterations that shape phenotypic diversity and disease risk. Numerous methods have been proposed for discovering SVs, however their benchmarking has been inconsistent across studies, often resulting in contradictory findings. One of the main sources of conflicting evaluation re-sults is the lack of consistency in the SV callsets used as ground truth, ra...

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Literature Corpus work: d644f6d0-87fe-54a7-ad99-7a5221db4c4d
DOI: 10.1101/2025.08.28.672546

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