Article

The comprehensive detection of hemoglobinopathy variants via long-read sequencing

2024-12-06

Abstract excerpt

<h4>ABSTRACT</h4> <h4>BACKGROUND</h4> The genetic complexity of hemoglobin genes, characterized by high GC content and homologous sequences, poses significant challenges for detecting hemoglobin variants in clinical settings. <h4>METHODS</h4> A long-read indexed PCR method utilizing the novel CycloneSEQ nanopore sequencing platform was developed to detect all variant types, including single nucleotide variants...

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Literature Corpus work: ff9a45e9-7ac0-5404-a79f-698b47028e31
DOI: 10.1101/2024.12.03.626522

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