Rapid Detection of Hemoglobinopathy Variants Using One-Step Library Preparation and Nanopore Sequencing

Clin Chem. 2026 Jun 23:hvag072. doi: 10.1093/clinchem/hvag072. Online ahead of print. ABSTRACT BACKGROUND: Third-generation sequencing (TGS) enables comprehensive detection of rare hemoglobin (Hb) variants due to its long-read capability. However, library preparation is often labor-intensive and time-consuming. This study developed a novel one-step library preparation (OSLP) method for TGS. By integrating barcode sequences into target-specific … Read more

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