Scientific Publication 

Validation of a Semiconductor Next-Generation Sequencing Assay for the Clinical Genetic Screening of CFTR

Author(s): Rolfs, Prof. Arndt, MD, Trujillano, Daniel, PhD, Kandaswamy, Krishna Kumar, PhD, Eichler, Sabrina, PhD, Creed Geraghty, Jenny, Weiss, Maximilian E. R., Köster, Julia, Papachristos, Efstathios B., Werber, Martin, Marais, Anett, Baysal, Erol, MD, Jaber, Iqbal Yousuf, Mehaney, Dina, MD, Farra, Chantal, MD

We have explored a more efficient genetic screening strategy based on next-generation sequencing (NGS) of the CFTR gene. Read more!

Genetic testing for cystic fibrosis and CFTR-related disorders mostly relies on laborious molecular tools that use Sanger sequencing to scan for mutations in the CFTR gene. We have explored a more efficient genetic screening strategy based on next-generation sequencing of the CFTR gene.


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