Article
A comprehensive approach for identifying filaggrin mutations and copy number variants by long-read sequencing.
Genomics - 1 Jul 2025
Yuda Akane, Nakamura Takako, Momose Sakura, Ishii Sena, Tanaka Hiromu, Yamamoto-Hanada Kiwako, Fukuie Tatsuki, Ohya Yukihiro, Nomura Toshifumi, Noguchi Emiko
Abstract excerpt
Filaggrin (FLG) is essential for skin barrier function, but has highly diverse and complex mutations linked to various allergic and dermatological diseases. Current genotyping methods often fail to capture the full range of FLG variants, especially in regions with high sequence homology. To overcome this limitation, we developed a singleplex PCR method that amplifies FLG exon 3 using FLG-specific primers tailed...
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