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

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 involvin...

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Detalles Bibliográficos
Autores principales: Achour, Ahlem, Koopmann, Tamara T., Baas, Frank, Harteveld, Cornelis L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8353275/
https://www.ncbi.nlm.nih.gov/pubmed/34385932
http://dx.doi.org/10.3389/fphys.2021.686689