Every CFTR variant counts – Target-capture based next-generation-sequencing for molecular diagnosis in the German CF Registry

Simone Ahting,Lutz Nährlich,Inka Held,Constance Henn,Angelika Krill,Kerstin Landwehr,Jochen Meister,Susanne Nährig,Anna Nolde,Katharina Remke,Renate Ruppel,Annette Sauer-Heilborn,Martin Schebek,Gudrun Schopper,Bernhard Schulte-Hubbert,Carsten Schwarz,Christina Smaczny,Sabine Wege,Julia Hentschel

Journal of Cystic Fibrosis（2023）

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Abstract

•A great amount of CF-patients have faulty information regarding their CFTR genotype.•Whole-CFTR-locus sequencing greatly increases the diagnostic yield.•More than 40 novel CFTR variants described here for the first time.•Whole-CFTR-locus sequencing should be implemented into diagnostic workflows.

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Key words

Cystic fibrosis,Next-generation-sequencing,Genotyping,Diagnostics,Genetics

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