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

J Invest Dermatol. 2024 Aug;144(8):1883-1886.e9. doi: 10.1016/j.jid.2024.01.020. Epub 2024 Feb 8.
No abstract available

Keywords: Adaptive sampling; Eczema; Epidermis; Epigenetic; FLG.

Publication types

  • Letter

MeSH terms

  • Alleles*
  • DNA Copy Number Variations*
  • DNA Methylation*
  • Dermatitis, Atopic* / genetics
  • Female
  • Filaggrin Proteins*
  • Humans
  • Ichthyosis Vulgaris* / genetics
  • Intermediate Filament Proteins / genetics
  • Loss of Function Mutation
  • Male

Substances

  • Filaggrin Proteins
  • FLG protein, human
  • Intermediate Filament Proteins