Article

The comprehensive detection of hemoglobinopathy variants via long-read sequencing

2026-08-14

Abstract excerpt

ABSTRACT BACKGROUND The genetic complexity of hemoglobin genes, characterized by high GC content and homologous sequences, poses significant challenges for detecting hemoglobin variants in clinical settings. METHODS A long-read indexed PCR method utilizing the novel CycloneSEQ nanopore sequencing platform was developed to detect all variant types, including single nucleotide variants (SNVs), deletions, structural...

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Literature Corpus work: d73ffd90-d8fc-5996-8859-6f14de0cf58e
DOI: 10.1186/s40246-026-01019-5

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