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

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

Journal of Investigative Dermatology

10.1016/j.jid.2024.01.020

http://dx.doi.org/10.1016/j.jid.2024.01.020

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

08 February 2024

Wong, C., Tham, C.-Y., Yang, L., Benton, M. C., Narang, V., Denil, S., Duan, K., Yew, Y. W., Lee, B., Florez de Sessions, P., & Common, J. E. A. (2024). Nanopore Sequencing Enables Allelic Phasing of FLG Loss-of-Function Variants, Intragenic Copy Number Variation, and Methylation Status in Atopic Dermatitis and Ichthyosis Vulgaris. Journal of Investigative Dermatology. https://doi.org/10.1016/j.jid.2024.01.020

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.

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This research / project is supported by the BMRC EDB NRF - IAF-PP grants - Skin Research Institute of Singapore
Grant Reference no. : H17/01/a0/ 004

This research / project is supported by the A*STAR BMRC - Central Research Funds
Grant Reference no. : NA

This research / project is supported by the BMRC EDB NRF - IAF-PP grants - SIgN Immunomonitoring platform
Grant Reference no. : 311006

This research / project is supported by the BMRC - transition funds - SIgN Immunomonitoring platform
Grant Reference no. : H16/99/b0/011

This research / project is supported by the BMRC - IAF-PP - SIgN Immunomonitoring platform SIGNAL grant
Grant Reference no. : H19/01/a0/024

This research / project is supported by the National Research Foundation - Shared Infrastructure Support (SIS)
Grant Reference no. : NRF2017_SISFP09

https://oar.a-star.edu.sg/communities-collections/articles/20070

0022-202X

Skin Research Lab