SVkhor: a unified framework for structural variant integration across long-read, short-read, and optical genome mapping data
Edris Sharif Rahmani, Quentin Thomas, Émilie Tisserant, Valentin Vautrot, Anthony Auclair, Fridolin Hounnondaho, Estella Castillon, Laurence Olivier Faivre, Christel Thauvin‐Robinet, Antonio Vitobello, Yannis Duffourd
SVkhor normalizes, merges and integrates long-read, short-read and optical-mapping structural variant calls; on HG002 it retained 98.6% of naive concatenation's true positives with 58.2% fewer false positives.
medRxiv · Aug 2, 2026 · PreprintGenetic & Genomic Medicine✦ In-depth digest