科學出版品 

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!

囊性纖維化和CFTR相關疾病的基因檢測主要依賴繁瑣的分子工具,例如使用Sanger定序來掃描CFTR基因突變。我們探索了一種基於CFTR基因新一代定序的更高效的基因篩檢策略。.


Read publication (PDF)