Article

Incremental Clinical Value of Single-Molecule Nanopore Sequencing in Thalassemia Testing: A Prospective, Double-blind, Multicenter Study

2026-06-09

Abstract excerpt

<h4>Background</h4> Thalassemia is one of the most common monogenic disorders worldwide. Current screening strategies combining hematological testing with molecular assays still carry a risk of missed diagnoses and suboptimal efficiency, particularly for complex structural variants and rare mutations. <h4>Methods</h4> In this prospective, double-blind, multicenter cohort study of 3,842 participants (3,362 pregna...

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Literature Corpus work: 61dab8b2-8909-502a-8132-6442dae109fd
DOI: 10.64898/2026.06.09.26354559

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