Cargando…
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...
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 |
Ejemplares similares
-
The hemoglobinopathies, molecular disease mechanisms and diagnostics
por: Harteveld, Cornelis L., et al.
Publicado: (2022) -
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases
por: Rizzuto, Valeria, et al.
Publicado: (2021) -
Genetic Epidemiology and Preventive Healthcare in Multiethnic Societies: The Hemoglobinopathies
por: Giordano, Piero C., et al.
Publicado: (2014) -
Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies
por: Shang, Xuan, et al.
Publicado: (2017) -
Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners
por: van Vliet, Margo E., et al.
Publicado: (2022)