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SNPscan Combined With CNVplex as a High-Performance Diagnostic Method for Thalassemia.

Prenatal diagnosis - 1 Oct 2024

Wei Xiaofeng, Wang Xingmin, Xiong Fu, Zhang Xinhua, Liu Dun, Zhou Wanjun, He Fei, Shang Xuan

Abstract excerpt

OBJECTIVE: Thalassemia is a Mendelian-inherited blood disorder with severe consequences, including disability and mortality, making it a significant public health concern. Therefore, there is an urgent need for precise diagnostic technologies. We introduce two innovative diagnostic techniques for thalassemia, SNPscan and CNVplex, designed to enhance molecular diagnostics of thalassemia. METHODS: The SNPscan and...

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PMID: 39256948
DOI: 10.1002/pd.6661

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