Improving the diagnostic yield for filaggrin; concealed mutations in the Dutch population

This study emphasizes screening of the entire FLG gene beyond population-specific mutations. Screening was simplified by implementing single-molecule molecular-inversion-probes and NextGeneration Sequencing. The diagnostic yield of FLG mutations increased identifying novel mutations and enhancing further research opportunities.

Source: Journal of Allergy and Clinical Immunology - January 31, 2020 Category: Allergy & Immunology Authors: Frank S. van Leersum, Ivo F. Nagtzaam, Carolien N. van Oosterhoud, Stijn A.I. Ghesquiere, Roel R.H.F.J. Brandts, Antoni Gosty ński, Peter M. Steijlen, Michel van Geel Source Type: research