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The Evolving Role of Next-Generation Sequencing in Screening and Diagnosis of Hemoglobinopathies

27 Jul 2021

Abstract excerpt

During the last few years, next-generation sequencing (NGS) has undergone a rapid transition from a research setting to a clinical application, becoming the method of choice in many clinical genetics laboratories for the detection of disease-causing variants in a variety of genetic diseases involving multiple genes. The hemoglobinopathies are the most frequently found Mendelian inherited monogenic disease...

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PMID: 34385932
DOI: 10.3389/fphys.2021.686689

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