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<p>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.</p>

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DNA methylation data from Japanese patients with Rubinstein–Taybi syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年11月28日

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  • Tomoko Kawai,
  • Taiga Aoki,
  • Kazuhiko Nakabayashi,
  • Kenichiro Hata,
  • Tadashi Kaname,
  • Rika Kosaki

摘要

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.