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

doi:10.1016/j.jcf.2023.10.009

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Article

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

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Jul 2024

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

Abstract excerpt

BACKGROUND: In times of genotype guided therapy options, a total of 3.2 % of people with CF (pwCF) in the German CF Registry[1] only have one or no CFTR-variant detected after genetic analysis. Additionally, genetic data in the Registry can be documented as free text and can therefore be prone to error. In order to allow the greatest possible amount of pwCF access to modern therapies, we conducted a re-evaluation...

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PMID: 37867076
DOI: 10.1016/j.jcf.2023.10.009

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