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). Due to its extremely repetitive nature and sequence similarity of intragenic repeats, the FLG gene is technically challenging to genetically analyse and therefore determine the contribution of LoF variants to disease status.

https://www.jidonline.org/article/S0022-202X(24)00097-6/fulltext?rss=yes

Source: Journal of Investigative Dermatology - February 7, 2024 Category: Dermatology Authors: Colin Wong, Cheng-Yong Tham, Lin Yang, Miles C. Benton, Vipin Narang, Simon Denil, Kaibo Duan, Yik Weng Yew, Bernett Lee, Paola Florez de Sessions, John E.A. Common Tags: Letters to the Editor Source Type: research