DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome.

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.

SUBMITTER: Kawai T 

PROVIDER: S-EPMC12660993 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature