Nanopore Sequencing Enables Allelic Phasing of FLG Loss-of-Function Variants, Intragenic Copy Number Variation, and Methylation Status in Atopic Dermatitis and Ichthyosis Vulgaris

Loss-of-function (LoF) variants in the FLG gene are causative for ichthyosis vulgaris (IV) and the major genetic risk factor for atopic dermatitis (AD) (Barker et al, 2007; Weidinger et al, 2006). Owing to its extremely repetitive nature and sequence similarity of intragenic repeats, the FLG gene is technically challenging to genetically analyze and therefore determine the contribution of LoF variants to disease status.