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

•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. I...

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Veröffentlicht in:	Journal of cystic fibrosis 2024-07, Vol.23 (4), p.774-781
Hauptverfasser:	Ahting, Simone, Nährlich, Lutz, Held, Inka, Henn, Constance, Krill, Angelika, Landwehr, Kerstin, Meister, Jochen, Nährig, Susanne, Nolde, Anna, Remke, Katharina, Ruppel, Renate, Sauer-Heilborn, Annette, Schebek, Martin, Schopper, Gudrun, Schulte-Hubbert, Bernhard, Schwarz, Carsten, Smaczny, Christina, Wege, Sabine, Hentschel, Julia
Format:	Artikel
Sprache:	eng
Schlagworte:	Cystic fibrosis Cystic Fibrosis - diagnosis Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - genetics Diagnostics Female Genetic Testing - methods Genetics Genotype Genotyping Germany High-Throughput Nucleotide Sequencing - methods Humans Male Mutation Next-generation-sequencing Registries
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