Open AccessFilaggrin sequencing and bioinformatics tools
Author(s) -
David J. Margolis,
Nandita Mitra,
Bradley Wubbenhorst,
Katherine L. Nathanson
Publication year - 2019
Publication title -
archives of dermatological research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.776
H-Index - 80
eISSN - 1432-069X
pISSN - 0340-3696
DOI - 10.1007/s00403-019-01956-3
Subject(s) - filaggrin , atopic dermatitis , genotyping , informatics , medicine , biology , genetics , computational biology , dermatology , genotype , gene , electrical engineering , engineering
Atopic dermatitis (AD) is a common illness that most commonly originates in childhood, but can be seen in all ages. Filaggrin (FLG) loss of function variants have been associated with the onset and severity of atopic dermatitis and are the most common genetic association with AD. Previous studies have shown variability in the frequency of FLG variants. We have recently demonstrated that previous FLG genotyping methods were inadequate for proper genotyping. In this concise report, we show that genotyping using a popular older informatics program is problematic. In fact, publications that used the older program likely do not properly capture all FLG variants.