Article

Accurate detection of pathogenic structural variants guided by multi-platform comparison

2025-05-27

Abstract excerpt

Structural variants (SVs) are a common cause of human diseases and greatly contribute to inter-individual variability. Their detection represents a significant challenge due to their diversity, size, and enrichment in repetitive regions. With the use of high quality long-read technologies, the majority of these challenges can now be mitigated. However, many downstream applications ranging from clinical diagnostics...

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Literature Corpus work: 9a708b45-7f3f-539c-bf95-36b63a746670
DOI: 10.1101/2025.05.21.655285

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