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Evaluation of Ion Torrent next-generation sequencing for thalassemia diagnosis

INTRODUCTION: To evaluate a next-generation sequencing (NGS) workflow in the screening and diagnosis of thalassemia. METHODS: In this prospective study, blood samples were obtained from people undergoing genetic screening for thalassemia at our centre in Guangzhou, China. Genomic DNA was polymerase...

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Detalles Bibliográficos
Autores principales: Chen, Peisong, Yu, Xuegao, Huang, Hao, Zeng, Wentao, He, Xiaohong, Liu, Min, Huang, Bin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7754798/
https://www.ncbi.nlm.nih.gov/pubmed/33342339
http://dx.doi.org/10.1177/0300060520967778