Article

SVkhor: a unified framework for structural variant integration across long-read, short-read, and optical genome mapping data

2026-08-02

Abstract excerpt

<h4>Summary</h4> Multi-technology human genome structural variant (SV) discovery is challenged by differences in breakpoint resolution, allele representation, SV annotation, and VCF structure across various callers and platforms. Here, we present SVkhor, a software framework designed to merge outputs from multiple callers within each technology and integrate SV callsets across available short-read sequencing, lon...

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Literature Corpus work: 1ec288ff-31c0-5066-852e-1d6c4817b007
DOI: 10.64898/2026.07.30.26359319

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