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Updated: Jun 16, 2026

Continuous Fluorescence-Based Endonuclease-Coupled DNA Methylation Assay to Screen for DNA Methyltransferase Inhibitors
Published on: August 5, 2022
DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome
Tomoko Kawai1, Taiga Aoki2, Kazuhiko Nakabayashi3
1Department of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan. kawai-tm@ncchd.go.jp.
Abstract:
An episignature is a genome-wide DNA methylation pattern that is specific to each syndrome or etiologic gene. Episignature analysis helps to diagnose patients with variants of uncertain significance (VUS), but this requires positive methylation datasets from patients with a definitive diagnosis. Here we provide methylation datasets of Rubinstein-Taybi syndrome at the individual patient level, which have not been published before. This dataset increases the likelihood of determining the function of the VUS.
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