Article

High-fidelity rare structural variant detection with HiFiRE3 reduced representation via restriction enzyme ends

2026-06-29

Abstract excerpt

High-fidelity detection of rare structural variants (SVs) remains challenging because library preparation and sequencing techniques generate artifactual junctions that obscure true single-molecule events. Here, we present HiFiRe3, an error-minimized sequencing framework that combines artifact-aware library design with error suppression and correction strategies to enable rare SV detection and frequency assessment...

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Literature Corpus work: c8e0209e-689a-5c63-8049-19ad172c2caf
DOI: 10.64898/2026.06.24.734375

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