Article

The comprehensive detection of hemoglobinopathy variants via long-read sequencing

2026-04-01

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> The genetic complexity of hemoglobin genes, characterized by high GC content and homologous sequences, poses significant challenges for detecting hemoglobin variants in clinical settings. <bold>Methods:</bold> A long-read indexed PCR method utilizing the novel CycloneSEQ nanopore sequencing platform was developed to detect all variant types, including singl...

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Literature Corpus work: 87652a7d-0496-5129-b601-1d34bc88a6af
DOI: 10.21203/rs.3.rs-9067880/v1

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