Nanopore sequencing enables allelic phasing of FLG loss-of-function variants, intragenic copy number variation and methylation status in atopic dermatitis and ichthyosis vulgaris

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

Journal of Investigative Dermatology(2024)

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关键词
Filaggrin,epidermis,epigenetic,adaptive sampling,eczema
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